Matches in SemOpenAlex for { <https://semopenalex.org/work/W4306803467> ?p ?o ?g. }
- W4306803467 endingPage "526" @default.
- W4306803467 startingPage "511" @default.
- W4306803467 abstract "Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders caused by mutations in at least 100 genes. However, approximately 60% of cases with axonal neuropathies (CMT2) still remain without a genetic diagnosis. We aimed at identifying novel disease genes responsible for CMT2.We performed whole exome sequencing and targeted next generation sequencing panel analyses on a cohort of CMT2 families with evidence for autosomal recessive inheritance. We also performed functional studies to explore the pathogenetic role of selected variants.We identified rare, recessive variants in the MYO9B (myosin IX) gene in two families with CMT2. MYO9B has not yet been associated with a human disease. MYO9B is an unconventional single-headed processive myosin motor protein with signaling properties, and, consistent with this, our results indicate that a variant occurring in the MYO9B motor domain impairs protein expression level and motor activity. Interestingly, a Myo9b-null mouse has degenerating axons in sciatic nerves and optic nerves, indicating that MYO9B plays an essential role in both peripheral nervous system and central nervous system axons, respectively. The degeneration observed in the optic nerve prompted us to screen for MYO9B mutations in a cohort of patients with optic atrophy (OA). Consistent with this, we found compound heterozygous variants in one case with isolated OA.Novel or very rare variants in MYO9B are associated with CMT2 and isolated OA." @default.
- W4306803467 created "2022-10-20" @default.
- W4306803467 creator A5002250604 @default.
- W4306803467 creator A5004115361 @default.
- W4306803467 creator A5007825095 @default.
- W4306803467 creator A5010248548 @default.
- W4306803467 creator A5011852209 @default.
- W4306803467 creator A5013378366 @default.
- W4306803467 creator A5016041265 @default.
- W4306803467 creator A5025895742 @default.
- W4306803467 creator A5034475339 @default.
- W4306803467 creator A5035932817 @default.
- W4306803467 creator A5035989744 @default.
- W4306803467 creator A5044299821 @default.
- W4306803467 creator A5046471898 @default.
- W4306803467 creator A5048493277 @default.
- W4306803467 creator A5050638195 @default.
- W4306803467 creator A5050899726 @default.
- W4306803467 creator A5050900793 @default.
- W4306803467 creator A5069919615 @default.
- W4306803467 creator A5070086396 @default.
- W4306803467 creator A5070241938 @default.
- W4306803467 creator A5070861848 @default.
- W4306803467 creator A5075282008 @default.
- W4306803467 creator A5076593030 @default.
- W4306803467 creator A5089224806 @default.
- W4306803467 date "2022-11-21" @default.
- W4306803467 modified "2023-10-02" @default.
- W4306803467 title "Mutations in <i>MYO9B</i> are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy" @default.
- W4306803467 cites W117580798 @default.
- W4306803467 cites W1620419303 @default.
- W4306803467 cites W1955938832 @default.
- W4306803467 cites W1974540142 @default.
- W4306803467 cites W2008215076 @default.
- W4306803467 cites W2059771026 @default.
- W4306803467 cites W2060859295 @default.
- W4306803467 cites W2064543601 @default.
- W4306803467 cites W2076316109 @default.
- W4306803467 cites W2081812303 @default.
- W4306803467 cites W2082841497 @default.
- W4306803467 cites W2105481952 @default.
- W4306803467 cites W2106393352 @default.
- W4306803467 cites W2113491370 @default.
- W4306803467 cites W2118926046 @default.
- W4306803467 cites W2121807254 @default.
- W4306803467 cites W2131066874 @default.
- W4306803467 cites W2141925719 @default.
- W4306803467 cites W2142803261 @default.
- W4306803467 cites W2148013477 @default.
- W4306803467 cites W2335183089 @default.
- W4306803467 cites W2511931103 @default.
- W4306803467 cites W2739789584 @default.
- W4306803467 cites W2789419608 @default.
- W4306803467 cites W2953115273 @default.
- W4306803467 cites W2965229043 @default.
- W4306803467 cites W2978318294 @default.
- W4306803467 cites W3032588189 @default.
- W4306803467 cites W3108622144 @default.
- W4306803467 cites W3119327338 @default.
- W4306803467 cites W4306803467 @default.
- W4306803467 doi "https://doi.org/10.1111/ene.15601" @default.
- W4306803467 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36260368" @default.
- W4306803467 hasPublicationYear "2022" @default.
- W4306803467 type Work @default.
- W4306803467 citedByCount "1" @default.
- W4306803467 countsByYear W43068034672022 @default.
- W4306803467 crossrefType "journal-article" @default.
- W4306803467 hasAuthorship W4306803467A5002250604 @default.
- W4306803467 hasAuthorship W4306803467A5004115361 @default.
- W4306803467 hasAuthorship W4306803467A5007825095 @default.
- W4306803467 hasAuthorship W4306803467A5010248548 @default.
- W4306803467 hasAuthorship W4306803467A5011852209 @default.
- W4306803467 hasAuthorship W4306803467A5013378366 @default.
- W4306803467 hasAuthorship W4306803467A5016041265 @default.
- W4306803467 hasAuthorship W4306803467A5025895742 @default.
- W4306803467 hasAuthorship W4306803467A5034475339 @default.
- W4306803467 hasAuthorship W4306803467A5035932817 @default.
- W4306803467 hasAuthorship W4306803467A5035989744 @default.
- W4306803467 hasAuthorship W4306803467A5044299821 @default.
- W4306803467 hasAuthorship W4306803467A5046471898 @default.
- W4306803467 hasAuthorship W4306803467A5048493277 @default.
- W4306803467 hasAuthorship W4306803467A5050638195 @default.
- W4306803467 hasAuthorship W4306803467A5050899726 @default.
- W4306803467 hasAuthorship W4306803467A5050900793 @default.
- W4306803467 hasAuthorship W4306803467A5069919615 @default.
- W4306803467 hasAuthorship W4306803467A5070086396 @default.
- W4306803467 hasAuthorship W4306803467A5070241938 @default.
- W4306803467 hasAuthorship W4306803467A5070861848 @default.
- W4306803467 hasAuthorship W4306803467A5075282008 @default.
- W4306803467 hasAuthorship W4306803467A5076593030 @default.
- W4306803467 hasAuthorship W4306803467A5089224806 @default.
- W4306803467 hasBestOaLocation W43068034672 @default.
- W4306803467 hasConcept C104317684 @default.
- W4306803467 hasConcept C127716648 @default.
- W4306803467 hasConcept C142724271 @default.
- W4306803467 hasConcept C16671776 @default.
- W4306803467 hasConcept C2778558090 @default.
- W4306803467 hasConcept C2781172350 @default.