The research report should be a detailed narrative explaining the function, biological processes, and localization of the gene product. Citations should be given for all claims.
You should prioritize authoritative reviews and primary scientific literature when conducting research. You can supplement
this with annotations you find in gene/protein databases, but these can be outdated or inaccurate.
We are specifically interested in the primary function of the gene - for enzymes, what reaction is catalyzed, and what is the substrate specificity? For transporters, what is the substrate? For structural proteins or adapters, what is the broader structural role? For signaling molecules, what is the role in the pathway.
We are interested in where in or outside the cell the gene product carries out its function.
We are also interested in the signaling or biochemical pathways in which the gene functions. We are less interested in broad pleiotropic effects, except where these elucidate the precise role.
Include evidence where possible. We are interested in both experimental evidence as well as inference from structure, evolution, or bioinformatic analysis. Precise studies should be prioritized over high-throughput, where available.
Identity verification passed. The requested target is human SYNE1—spectrin repeat containing nuclear envelope protein 1—encoding nesprin-1, also known as enaptin, KASH1, Myne-1, and Syne-1. This agrees with the supplied UniProt accession Q8NF91, organism Homo sapiens, nesprin-family assignment, and calponin-homology-domain annotations. The retrieved literature consistently maps SYNE1 to nesprin-1; no conflicting same-symbol protein was identified. Papers about SYNE2/nesprin-2 were not used as direct SYNE1 evidence.
Nesprin-1 is not an enzyme or transporter. Its primary function is that of a giant structural scaffold and adaptor at the nuclear envelope. KASH-containing nesprin-1 isoforms form the cytoplasmic/outer-nuclear-membrane half of the LINC complex—the linker of nucleoskeleton and cytoskeleton—and mechanically connect cytoskeletal actin and microtubule machinery to SUN proteins, the nuclear lamina, and nucleoplasmic structures. Its best-supported cellular roles are nuclear anchorage and positioning, centrosome–nucleus coupling, perinuclear microtubule organization, nuclear-shape control, and mechanotransduction, particularly in skeletal and cardiac muscle. (ziyi2024nesprinproteinsbridging pages 4-5, silva2023nesprin1novelregulator pages 1-2, leong2023nesprin1linccomplexes pages 1-2)
| Aspect | Best-supported annotation | Evidence type/model | Confidence/limitation |
|---|---|---|---|
| Identity | Human SYNE1 encodes nesprin-1; Q8NF91 is the supplied UniProt target. It belongs to the nesprin/KASH protein family. | Concordant recent reviews and human genetic literature | High for gene–protein identity; the accession was supplied in the query rather than independently shown in the retrieved papers. |
| Architecture | Giant nesprin-1 is approximately 1.01 MDa, with paired N-terminal calponin-homology actin-binding domains, a long spectrin-repeat rod, and a C-terminal transmembrane/KASH region. | Protein-domain annotation and recent structural-functional reviews | High for overall architecture; exact repeat numbers and boundaries can vary among annotations and isoforms. |
| Localization and topology | Giant nesprin-1 is anchored in the outer nuclear membrane. Its cytoplasmic N-terminus contacts cytoskeletal machinery, whereas its luminal KASH tail binds inner-nuclear-membrane SUN proteins to form a LINC bridge. | Cell-biological localization, KASH mutagenesis, and LINC-complex studies | High for KASH-containing isoforms; shorter isoforms lacking KASH or other regions can localize differently. |
| Giant versus α2 isoforms | The giant form supplies the long actin-linked scaffold. Muscle-enriched nesprin-1α2 is approximately 112 kDa, contains the final six spectrin repeats plus a unique 31-residue N-terminus, and becomes enriched at the nuclear envelope during muscle differentiation. | Isoform-expression and muscle-cell studies; recent reviews | Moderate–high; extensive alternative transcription and limited isoform-specific reagents complicate assignment of every phenotype. |
| SUN and actin partners | The KASH tail binds SUN1 and/or SUN2 across the perinuclear space; the giant isoform's paired CH domains bind filamentous actin. | Biochemical interaction, localization, domain-function, and perturbation evidence | High for SUN–KASH assembly and actin binding; SUN1 versus SUN2 contributions are cell-type dependent. |
| Microtubule and MTOC partners | Nesprin-1-dependent nuclear-envelope machinery includes Kif5b, the dynein adaptor Bicd2, PCM1, and pericentrin. Muscle α2 also associates with AKAP6, which helps organize perinuclear centrosomal and signaling components. | Mouse cardiomyocytes, C2C12 myotubes, human myotubes, and interaction studies | Moderate–high; much of the most precise evidence is from mouse or cultured muscle models, and AKAP450 itself was not uniformly nesprin-1 dependent. |
| Principal molecular function | Nesprin-1 is a structural scaffold and adaptor, not an enzyme or transporter. It mechanically couples the cytoskeleton, nuclear envelope, lamina, and nucleoplasm. | LINC topology, genetic perturbation, and cell-mechanics studies | High. |
| Biological processes | Principal roles include nuclear anchorage and positioning, centrosome–nucleus coupling, perinuclear microtubule organization, nuclear-shape control, force transmission, and mechanotransduction. | Myotube and cardiomyocyte perturbations; nervous-system and muscle reviews | High for nuclear positioning and morphology; downstream transcriptional effects are context dependent and less isoform resolved. |
| Established disease links | Biallelic loss-of-function variants cause SYNE1-associated recessive ataxia/SCAR8–ARCA1. Rare heterozygous variants have been associated with Emery–Dreifuss muscular dystrophy type 4, although muscular phenotypes and penetrance are heterogeneous. | Human pedigrees, clinical sequencing, systematic review, and disease databases | High for recessive ataxia; moderate for assigning pathogenicity to individual heterozygous EDMD4 variants. |
| Preliminary hypertension association | A 2024 study found segregating compound-heterozygous spectrin-repeat variants in 3 of 16 discovery families with childhood-onset essential hypertension; SYNE1 knockdown increased vascular smooth-muscle stiffness, which ROCK inhibition rescued in vitro. | Exome study of 64 probands plus small functional knockdown experiments | Preliminary; replication, penetrance estimates, ancestry-aware validation, and clinical trials are required. |
| Current application and therapy status | Current real-world use is chiefly genetic diagnosis, including sequencing plus deletion/CNV analysis when only one pathogenic allele is detected. There is no approved SYNE1-directed treatment; LINC modulation, nonsense suppression, and RhoA–ROCK inhibition remain experimental concepts. | Diagnostic case reports, genomic cohorts, mouse rescue experiments, and in-vitro pharmacology | High for diagnostic utility; low/preclinical for target-directed therapy. |
Table: Concise evidence-based annotation of human SYNE1/nesprin-1, covering identity, structure, localization, partners, functions, disease associations, and translational status. Confidence notes distinguish established findings from model-dependent or preliminary evidence.
Full-length nesprin-1 giant (nesprin-1G) is an exceptionally large protein of approximately 1.01 MDa, encoded by a gene described as having 146 exons. Its canonical architecture is:
The KASH region includes a minimal SUN-binding sequence. Mouse mutagenesis studies identified an 18-residue minimal SUN-binding region and a conserved KASH cysteine capable of forming a disulfide bond with the corresponding SUN-domain cysteine. Loss of the SUN-binding sequence, even with the transmembrane segment retained, displaced nesprin-1 from the nuclear envelope toward peripheral ER/sarcoplasmic-reticulum-like membranes. This demonstrates that membrane insertion alone is insufficient: SUN–KASH engagement is essential for stable nuclear-envelope localization. (leong2023nesprin1linccomplexes pages 1-2, leong2023nesprin1linccomplexes pages 3-4)
SYNE1 uses extensive alternative promoters and splicing. Therefore, “nesprin-1” does not denote one uniform molecular species. The giant isoform contains the N-terminal actin-binding module, whereas many shorter isoforms retain only subsets of the spectrin-repeat scaffold and may differ in localization and partners. This is a major interpretive issue for variants and experimental knockdowns. (ziyi2024nesprinproteinsbridging pages 4-5, silva2023nesprin1novelregulator pages 10-11)
A particularly important short isoform is nesprin-1α2, approximately 112 kDa, containing the last six spectrin repeats, the KASH region, and a unique 31-amino-acid N-terminus. It is strongly induced during muscle differentiation and is found at the nuclear envelope, with reports of both outer- and inner-nuclear-membrane localization. In differentiated muscle, its outer-nuclear-membrane pool functions as an adaptor for perinuclear microtubule machinery. (ziyi2024nesprinproteinsbridging pages 4-5)
For KASH-containing isoforms, the principal functional site is the outer nuclear membrane. Most of the protein projects into the cytoplasm, where it engages cytoskeletal components. The short KASH tail extends into the perinuclear space and binds SUN1 and/or SUN2 in the inner nuclear membrane. SUN-protein N-termini face the nucleoplasm and associate with lamins and other nuclear structures. Thus, the SUN–KASH assembly creates a continuous mechanical path:
cytoskeleton → nesprin-1 → SUN protein → nuclear lamina/nucleoplasm. (kuwako2024diverserolesof pages 1-2, leong2023nesprin1linccomplexes pages 1-2)
Because the outer nuclear membrane is continuous with the endoplasmic reticulum, loss of SUN binding can redistribute nesprin-1 into peripheral ER-like membranes. Localization therefore depends on both the transmembrane anchor and retention by SUN proteins. Short isoforms lacking KASH or other targeting regions may occupy additional cellular compartments, so outer-nuclear-membrane localization should not be generalized to every SYNE1 transcript. (leong2023nesprin1linccomplexes pages 1-2)
Nesprin-1’s primary biochemical role is mechanical coupling and molecular organization, rather than catalysis. Giant nesprin-1’s paired CH domains bind actin, while its KASH tail binds SUN proteins. Its spectrin-repeat rod spaces and organizes these interactions. The assembled LINC complex transmits force bidirectionally between the cytoskeleton and nucleus, influencing nuclear movement, nuclear shape, envelope integrity, chromatin organization, and mechanically responsive gene regulation. (silva2023nesprin1novelregulator pages 1-2, ziyi2024nesprinproteinsbridging pages 4-5)
This architecture explains why SYNE1 defects are most conspicuous in mechanically active or highly polarized cells—myofibers, cardiomyocytes, neurons, and migrating cells—even though nesprin-1 is broadly expressed. Recent expert reviews nevertheless caution that tissue specificity cannot be explained solely by giant-isoform abundance; differential expression of short isoforms, particularly nesprin-1α2, and cell-specific partner networks are likely important. (silva2023nesprin1novelregulator pages 10-11)
In striated muscle, nesprin-1 is a major nuclear-envelope anchor for microtubule-organizing and motor machinery. Nesprin-1-dependent components identified at or near the cardiomyocyte nuclear envelope include PCM1, pericentrin, kinesin-1 heavy chain Kif5b, and the dynein adaptor Bicd2. Nesprin-1α2 also associates with kinesin-1/KLC-1/2 and AKAP6; AKAP6 connects to PCM1 and AKAP9-related centrosomal machinery and may organize a perinuclear cAMP–PKA signaling platform. (leong2023nesprin1linccomplexes pages 3-4, ziyi2024nesprinproteinsbridging pages 4-5)
The exact interactome is context dependent. In a 2023 striated-muscle study, AKAP450 remained predominantly cytoplasmic and was not uniformly dependent on nesprin-1 for nuclear-envelope anchoring, whereas PCM1, pericentrin, and kinesin-associated components showed clearer nesprin-1 dependence. It is therefore preferable to annotate nesprin-1 as organizing a cell-type-specific perinuclear MTOC/motor platform, rather than asserting that every centrosomal protein binds it directly. (leong2023nesprin1linccomplexes pages 6-7)
Functional perturbation supports this structural annotation. In differentiated C2C12 myotubes, nesprin-1 depletion removed nuclear-envelope-associated pericentrin and increased nuclear roundness. Human myotubes carrying a SYNE1 mutation likewise showed increased nuclear roundness. In mouse cardiomyocytes, disruption of the nesprin-1 KASH domain removed microtubule-associated elements from the nuclear envelope and reduced internuclear spacing. SUN1 depletion produced polarized PCM1, pericentrin, Kif5b, and residual nesprin-1 at nuclear poles, consistent with unbalanced longitudinal microtubule forces; localization differences were highly significant in the reported analysis (P < 0.0001). (leong2023nesprin1linccomplexes pages 6-7, leong2023nesprin1linccomplexes pages 4-5)
These results support roles in:
SYNE1 is best placed in the LINC-complex/mechanotransduction pathway, rather than in a conventional metabolic pathway. Relevant connected processes include:
In nervous-system models, LINC complexes are required for interkinetic nuclear migration, neuronal migration, nuclear rotation, and centrosome–nucleus coupling. However, some motor-recruitment mechanisms are better established for nesprin-2 or non-human orthologues than for human nesprin-1. Such findings support a conserved family-level model but should not automatically be assigned as direct biochemical interactions of Q8NF91. (kuwako2024diverserolesof pages 8-10)
A major 2023 development was evidence that nesprin-1 LINC complexes can be pathogenic force conduits in lamin-deficient muscle. In mice with cardiomyocyte-specific Lmna deletion, cardiac dysfunction included reduced ejection fraction and fractional shortening, ventricular-wall thinning, and fibrosis. Disrupting the nesprin-1 KASH domain nearly eliminated these abnormalities in the double-mutant model. The interpretation is not that normal nesprin-1 is intrinsically harmful, but that microtubule-derived forces transmitted through SUN1–nesprin-1 become damaging when the lamin network is mechanically weakened. (leong2023nesprin1linccomplexes pages 6-7, leong2023nesprin1linccomplexes pages 8-9)
The rescue appeared selective: nesprin-1 disruption, but not nesprin-2 disruption, suppressed LMNA-associated pathology in the tested models, and SUN2 loss did not reproduce SUN1-associated rescue. This argues for cell- and isoform-specific LINC assemblies rather than a fully redundant generic bridge. Importantly, KASH disruption was comparatively well tolerated in otherwise normal mice, but broader SYNE1 mutations affecting additional regions can cause disease. (leong2023nesprin1linccomplexes pages 1-2, leong2023nesprin1linccomplexes pages 8-9)
The 2023 review by De Silva and colleagues and the 2024 review by Zhou and colleagues emphasize that muscle specificity likely emerges from isoform selection and partner recruitment, especially nesprin-1α2 and AKAP6/microtubule machinery, rather than from ubiquitous nesprin-1G alone. Both reviews also stress incomplete isoform resolution because of extensive sequence sharing and a shortage of isoform-specific antibodies. (silva2023nesprin1novelregulator pages 10-11, ziyi2024nesprinproteinsbridging pages 4-5)
The most firmly established human association is biallelic SYNE1 loss of function causing autosomal-recessive cerebellar ataxia, commonly termed SCAR8/SYNE1 ataxia/ARCA1. Clinical expression ranges from relatively pure adult-onset cerebellar ataxia to “ataxia-plus” disease involving pyramidal, motor-neuron, or muscular features. Open Targets likewise lists autosomal-recessive ataxia, Beauce type, among the strongest SYNE1 disease associations. (OpenTargets Search: -SYNE1, storey2022genotypephenotypecorrelationsin pages 15-16)
A 2023 diagnostic report illustrates both phenotypic complexity and the need for copy-number analysis. Two sisters with onset at ages 23 and 30 years carried a pathogenic nonsense variant, p.Arg4420Ter, in trans with a 2,869-bp deletion involving exon 122. WES found the sequence variant, whereas array-CGH, qPCR, and breakpoint sequencing established the deletion. COX-negative fibers and mitochondrial-DNA deletions had initially suggested mitochondrial disease; the final result showed that apparently mitochondrial presentations can instead reflect SYNE1 deficiency. (serag2023acasereport pages 4-5, serag2023acasereport pages 2-4)
A systematic review found that truncating variants predominate and that nearly 50% of reported coding-region disease variants were nonsense variants. Nevertheless, simple domain-to-phenotype rules remain weak, partly because variants affect different transcripts and because many short isoforms are incompletely annotated. (storey2022genotypephenotypecorrelationsin pages 15-16)
Rare SYNE1 variants have been linked to Emery–Dreifuss muscular dystrophy type 4, other nesprin-related myopathies, arthrogryposis, and cardiomyopathic phenotypes. Open Targets lists EDMD4 and myogenic arthrogryposis among supported associations. Mechanistically, these disorders are consistent with defective nuclear positioning, abnormal nuclear morphology, impaired force transmission, and altered LINC interactions. (OpenTargets Search: -SYNE1, silva2023nesprin1novelregulator pages 1-2)
Interpretation is more difficult than for recessive ataxia. SYNE1 is very large, harbors substantial background variation, and produces many transcripts. Rare heterozygous missense variants—especially in spectrin repeats—cannot be considered pathogenic without segregation, population-frequency, transcript, and preferably functional evidence. Recent expert reviews therefore regard genotype–phenotype assignment and isoform-specific pathogenicity as unresolved. (silva2023nesprin1novelregulator pages 10-11, storey2022genotypephenotypecorrelationsin pages 15-16)
A 2024 JCI Insight study proposed an additional phenotype: childhood-onset essential hypertension. The discovery arm comprised 16 families with 19 affected individuals; four affected individuals from 3 of the 16 families carried six rare, predicted-damaging, compound-heterozygous SYNE1 missense variants—about 21% of affected discovery participants. The overall study included 64 probands, with 48 additional families used for extension analyses. The variants clustered in spectrin-repeat regions and were enriched among participants of African genetic ancestry. (copeland2024exomesequencingimplicates pages 2-3, copeland2024exomesequencingimplicates pages 1-2)
SYNE1 knockdown reduced expression approximately twofold and increased cultured vascular smooth-muscle-cell stiffness; the ROCK inhibitor fasudil restored elasticity toward control values. This provides a plausible LINC–RhoA/ROCK–vascular-mechanics mechanism. However, functional experiments were very small, the association requires independent replication and penetrance estimates, and ancestry must not be treated as a deterministic biological category. This should presently be classified as a promising but preliminary association, not an established SYNE1 syndrome or treatment indication. (copeland2024exomesequencingimplicates pages 6-8, copeland2024exomesequencingimplicates pages 5-6)
SYNE1-region signals have been reported in bipolar disorder, including a locus containing the brain-specific CPG2 transcript, while variants have also been reported in autism and sporadic ALS. A bipolar-disorder GWAS discussed in a 2024 review included 7,481 patients. These observations are association-level evidence and may involve transcript-specific neuronal biology; they do not establish that loss of canonical outer-nuclear-membrane nesprin-1 causes these disorders. (kuwako2024diverserolesof pages 12-14)
The principal current application is genetic diagnosis. SYNE1 should be included in testing for recessive adult-onset ataxia, ataxia-plus syndromes, selected congenital arthrogryposis cases, and compatible nuclear-envelopathy/myopathy presentations. Because single-nucleotide sequencing may detect only one allele, testing should support exon-level deletion/duplication or broader CNV detection. The 2023 ARCA1 family demonstrates the practical value of combining WES with array-CGH or genome-level methods. (serag2023acasereport pages 4-5, serag2023acasereport pages 2-4)
Variant interpretation should be transcript aware and should assess:
No approved therapy directly corrects SYNE1 or nesprin-1 function. Current treatment remains phenotype based—rehabilitation and mobility support for ataxia or myopathy, and cardiac surveillance or standard cardiovascular treatment when indicated.
Experimental directions include:
The apparent rescue of laminopathy by nesprin-1 KASH disruption is compelling target-validation evidence in mice, but chronic systemic disruption could interfere with normal nuclear positioning in muscle, nervous tissue, and other mechanically active cells. Therapeutic development will therefore require tissue- and isoform-selective modulation rather than indiscriminate SYNE1 inhibition. (leong2023nesprin1linccomplexes pages 8-9, silva2023nesprin1novelregulator pages 10-11)
The current consensus is that nesprin-1 is a modular nuclear-envelope mechanoskeleton, not merely a static tether. It integrates actin, microtubule motors, centrosomal proteins, SUN proteins, lamins, and signaling scaffolds. The strongest functional evidence concerns KASH-dependent LINC assembly, muscle nuclear positioning, and perinuclear microtubule organization. (silva2023nesprin1novelregulator pages 1-2, leong2023nesprin1linccomplexes pages 1-2, ziyi2024nesprinproteinsbridging pages 4-5)
Important limitations are:
Human SYNE1/Q8NF91 encodes nesprin-1, a nesprin-family structural scaffold whose principal functional pool resides at the outer nuclear membrane. Through its N-terminal actin-binding CH domains, spectrin-repeat scaffold, and C-terminal SUN-binding KASH domain, nesprin-1 forms a core LINC-complex bridge between cytoskeleton and nucleoskeleton. Giant nesprin-1 chiefly supports actin-linked mechanics, while muscle-enriched nesprin-1α2 organizes kinesin-, AKAP6-, and MTOC-associated machinery. The resulting system governs nuclear position, shape, spacing, and mechanical signaling. Human genetics most securely establishes biallelic loss of function in recessive SYNE1 ataxia; muscular envelopathies are established but more heterogeneous, and the 2024 hypertension association remains preliminary. Current implementation is diagnostic rather than therapeutic, with sequencing plus CNV analysis providing the clearest real-world value.
References
(ziyi2024nesprinproteinsbridging pages 4-5): Zhou Zi-yi, Qin Qin, Zhou Fei, Cao Cun-Yu, and Teng Lin. Nesprin proteins: bridging nuclear envelope dynamics to muscular dysfunction. Cell Communication and Signaling : CCS, Apr 2024. URL: https://doi.org/10.1186/s12964-024-01593-y, doi:10.1186/s12964-024-01593-y. This article has 28 citations.
(silva2023nesprin1novelregulator pages 1-2): Shanelle De Silva, Zhijuan Fan, Baoqiang Kang, Catherine M. Shanahan, and Qiuping Zhang. Nesprin-1: novel regulator of striated muscle nuclear positioning and mechanotransduction. Biochemical Society Transactions, 51:1331-1345, May 2023. URL: https://doi.org/10.1042/bst20221541, doi:10.1042/bst20221541. This article has 29 citations and is from a peer-reviewed journal.
(leong2023nesprin1linccomplexes pages 1-2): Ei Leen Leong, Nyein Thet Khaing, Bruno Cadot, Wei Liang Hong, Serguei Kozlov, Hendrikje Werner, Esther Sook Miin Wong, Colin L Stewart, Brian Burke, and Yin Loon Lee. Nesprin-1 linc complexes recruit microtubule cytoskeleton proteins and drive pathology in lmna-mutant striated muscle. Human Molecular Genetics, 32:177-191, Aug 2023. URL: https://doi.org/10.1093/hmg/ddac179, doi:10.1093/hmg/ddac179. This article has 47 citations and is from a domain leading peer-reviewed journal.
(leong2023nesprin1linccomplexes pages 3-4): Ei Leen Leong, Nyein Thet Khaing, Bruno Cadot, Wei Liang Hong, Serguei Kozlov, Hendrikje Werner, Esther Sook Miin Wong, Colin L Stewart, Brian Burke, and Yin Loon Lee. Nesprin-1 linc complexes recruit microtubule cytoskeleton proteins and drive pathology in lmna-mutant striated muscle. Human Molecular Genetics, 32:177-191, Aug 2023. URL: https://doi.org/10.1093/hmg/ddac179, doi:10.1093/hmg/ddac179. This article has 47 citations and is from a domain leading peer-reviewed journal.
(silva2023nesprin1novelregulator pages 10-11): Shanelle De Silva, Zhijuan Fan, Baoqiang Kang, Catherine M. Shanahan, and Qiuping Zhang. Nesprin-1: novel regulator of striated muscle nuclear positioning and mechanotransduction. Biochemical Society Transactions, 51:1331-1345, May 2023. URL: https://doi.org/10.1042/bst20221541, doi:10.1042/bst20221541. This article has 29 citations and is from a peer-reviewed journal.
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(leong2023nesprin1linccomplexes pages 6-7): Ei Leen Leong, Nyein Thet Khaing, Bruno Cadot, Wei Liang Hong, Serguei Kozlov, Hendrikje Werner, Esther Sook Miin Wong, Colin L Stewart, Brian Burke, and Yin Loon Lee. Nesprin-1 linc complexes recruit microtubule cytoskeleton proteins and drive pathology in lmna-mutant striated muscle. Human Molecular Genetics, 32:177-191, Aug 2023. URL: https://doi.org/10.1093/hmg/ddac179, doi:10.1093/hmg/ddac179. This article has 47 citations and is from a domain leading peer-reviewed journal.
(leong2023nesprin1linccomplexes pages 4-5): Ei Leen Leong, Nyein Thet Khaing, Bruno Cadot, Wei Liang Hong, Serguei Kozlov, Hendrikje Werner, Esther Sook Miin Wong, Colin L Stewart, Brian Burke, and Yin Loon Lee. Nesprin-1 linc complexes recruit microtubule cytoskeleton proteins and drive pathology in lmna-mutant striated muscle. Human Molecular Genetics, 32:177-191, Aug 2023. URL: https://doi.org/10.1093/hmg/ddac179, doi:10.1093/hmg/ddac179. This article has 47 citations and is from a domain leading peer-reviewed journal.
(ziyi2024nesprinproteinsbridging pages 2-4): Zhou Zi-yi, Qin Qin, Zhou Fei, Cao Cun-Yu, and Teng Lin. Nesprin proteins: bridging nuclear envelope dynamics to muscular dysfunction. Cell Communication and Signaling : CCS, Apr 2024. URL: https://doi.org/10.1186/s12964-024-01593-y, doi:10.1186/s12964-024-01593-y. This article has 28 citations.
(kuwako2024diverserolesof pages 8-10): Ken-ichiro Kuwako and Sadafumi Suzuki. Diverse roles of the linc complex in cellular function and disease in the nervous system. International Journal of Molecular Sciences, 25:11525, Oct 2024. URL: https://doi.org/10.3390/ijms252111525, doi:10.3390/ijms252111525. This article has 5 citations.
(leong2023nesprin1linccomplexes pages 8-9): Ei Leen Leong, Nyein Thet Khaing, Bruno Cadot, Wei Liang Hong, Serguei Kozlov, Hendrikje Werner, Esther Sook Miin Wong, Colin L Stewart, Brian Burke, and Yin Loon Lee. Nesprin-1 linc complexes recruit microtubule cytoskeleton proteins and drive pathology in lmna-mutant striated muscle. Human Molecular Genetics, 32:177-191, Aug 2023. URL: https://doi.org/10.1093/hmg/ddac179, doi:10.1093/hmg/ddac179. This article has 47 citations and is from a domain leading peer-reviewed journal.
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(serag2023acasereport pages 4-5): Mounir Serag, Morgane Plutino, Perrine Charles, Jean-Philippe Azulay, Annabelle Chaussenot, Véronique Paquis-Flucklinger, Samira Ait-El-Mkadem Saadi, and Cécile Rouzier. A case report of syne1 deficiency-mimicking mitochondrial disease and the value of pangenomic investigations. Genes, 14:2154, Nov 2023. URL: https://doi.org/10.3390/genes14122154, doi:10.3390/genes14122154. This article has 1 citations.
(serag2023acasereport pages 2-4): Mounir Serag, Morgane Plutino, Perrine Charles, Jean-Philippe Azulay, Annabelle Chaussenot, Véronique Paquis-Flucklinger, Samira Ait-El-Mkadem Saadi, and Cécile Rouzier. A case report of syne1 deficiency-mimicking mitochondrial disease and the value of pangenomic investigations. Genes, 14:2154, Nov 2023. URL: https://doi.org/10.3390/genes14122154, doi:10.3390/genes14122154. This article has 1 citations.
(copeland2024exomesequencingimplicates pages 2-3): Ian Copeland, Edmond Wonkam-Tingang, Monesha Gupta-Malhotra, S. Shahrukh Hashmi, Yixing Han, Aarti Jajoo, Nancy J. Hall, Paula P. Hernandez, Natasha Lie, Dan Liu, Jun Xu, Jill Rosenfeld, Aparna Haldipur, Zelene Desire, Zeynep H. Coban-Akdemir, Daryl A. Scott, Qing Li, Hsiao-Tuan Chao, Ana M. Zaske, James R. Lupski, Dianna M. Milewicz, Sanjay Shete, Jennifer E. Posey, and Neil A. Hanchard. Exome sequencing implicates ancestry-related mendelian variation at syne1 in childhood-onset essential hypertension. JCI Insight, May 2024. URL: https://doi.org/10.1172/jci.insight.172152, doi:10.1172/jci.insight.172152. This article has 6 citations and is from a domain leading peer-reviewed journal.
(copeland2024exomesequencingimplicates pages 1-2): Ian Copeland, Edmond Wonkam-Tingang, Monesha Gupta-Malhotra, S. Shahrukh Hashmi, Yixing Han, Aarti Jajoo, Nancy J. Hall, Paula P. Hernandez, Natasha Lie, Dan Liu, Jun Xu, Jill Rosenfeld, Aparna Haldipur, Zelene Desire, Zeynep H. Coban-Akdemir, Daryl A. Scott, Qing Li, Hsiao-Tuan Chao, Ana M. Zaske, James R. Lupski, Dianna M. Milewicz, Sanjay Shete, Jennifer E. Posey, and Neil A. Hanchard. Exome sequencing implicates ancestry-related mendelian variation at syne1 in childhood-onset essential hypertension. JCI Insight, May 2024. URL: https://doi.org/10.1172/jci.insight.172152, doi:10.1172/jci.insight.172152. This article has 6 citations and is from a domain leading peer-reviewed journal.
(copeland2024exomesequencingimplicates pages 6-8): Ian Copeland, Edmond Wonkam-Tingang, Monesha Gupta-Malhotra, S. Shahrukh Hashmi, Yixing Han, Aarti Jajoo, Nancy J. Hall, Paula P. Hernandez, Natasha Lie, Dan Liu, Jun Xu, Jill Rosenfeld, Aparna Haldipur, Zelene Desire, Zeynep H. Coban-Akdemir, Daryl A. Scott, Qing Li, Hsiao-Tuan Chao, Ana M. Zaske, James R. Lupski, Dianna M. Milewicz, Sanjay Shete, Jennifer E. Posey, and Neil A. Hanchard. Exome sequencing implicates ancestry-related mendelian variation at syne1 in childhood-onset essential hypertension. JCI Insight, May 2024. URL: https://doi.org/10.1172/jci.insight.172152, doi:10.1172/jci.insight.172152. This article has 6 citations and is from a domain leading peer-reviewed journal.
(copeland2024exomesequencingimplicates pages 5-6): Ian Copeland, Edmond Wonkam-Tingang, Monesha Gupta-Malhotra, S. Shahrukh Hashmi, Yixing Han, Aarti Jajoo, Nancy J. Hall, Paula P. Hernandez, Natasha Lie, Dan Liu, Jun Xu, Jill Rosenfeld, Aparna Haldipur, Zelene Desire, Zeynep H. Coban-Akdemir, Daryl A. Scott, Qing Li, Hsiao-Tuan Chao, Ana M. Zaske, James R. Lupski, Dianna M. Milewicz, Sanjay Shete, Jennifer E. Posey, and Neil A. Hanchard. Exome sequencing implicates ancestry-related mendelian variation at syne1 in childhood-onset essential hypertension. JCI Insight, May 2024. URL: https://doi.org/10.1172/jci.insight.172152, doi:10.1172/jci.insight.172152. This article has 6 citations and is from a domain leading peer-reviewed journal.
(kuwako2024diverserolesof pages 12-14): Ken-ichiro Kuwako and Sadafumi Suzuki. Diverse roles of the linc complex in cellular function and disease in the nervous system. International Journal of Molecular Sciences, 25:11525, Oct 2024. URL: https://doi.org/10.3390/ijms252111525, doi:10.3390/ijms252111525. This article has 5 citations.