How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
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Tryptophan Scanning Reveals Dense Packing of Connexin Transmembrane Domains in Gap Junction Channels Composed of Connexin32Connexinopathies: a structural and functional glimpseMolecular mechanisms regulating formation, trafficking and processing of annular gap junctions.Charcot-Marie-Tooth disease: New insights from skin biopsyClinical and biophysical characterization of 19 GJB1 mutations.Connexin channel modulators and their mechanisms of action.Intermediate Charcot-Marie-Tooth disease.GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems.Mechanisms linking connexin mutations to human diseases.Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).A Review of X-linked Charcot-Marie-Tooth Disease.Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease.Intraneural GJB1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease.Endoplasmic Reticulum Protein Quality Control Failure in Myelin Disorders.Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Structural studies of N-terminal mutants of Connexin 26 and Connexin 32 using (1)H NMR spectroscopy.The distribution and functional properties of Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions.An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.Cx32 hemichannel opening by cytosolic Ca2+ is inhibited by the R220X mutation that causes Charcot-Marie-Tooth disease.Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients.CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction.Recurrent central nervous system white matter changes in charcot-Marie-tooth type X disease.What's the Function of Connexin 32 in the Peripheral Nervous System?Acetylation of C-terminal lysines modulates protein turnover and stability of Connexin-32
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P2860
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
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2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年學術文章
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name
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
@ast
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
@en
type
label
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
@ast
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
@en
prefLabel
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
@ast
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
@en
P2093
P2860
P1433
P1476
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
@en
P2093
Charles K Abrams
Kleopas A Kleopa
Steven S Scherer
P2860
P304
P356
10.1016/J.BRAINRES.2012.03.068
P407
P577
2012-07-06T00:00:00Z