Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.
about
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutationsGap junctions in inherited human disorders of the central nervous system.Charcot-Marie-Tooth disease and intracellular trafficStructural organization of intercellular channels II. Amino terminal domain of the connexins: sequence, functional roles, and structureA fully atomistic model of the Cx32 connexonPhenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.Post-translational modifications of connexin26 revealed by mass spectrometry.CamKII inhibitors reduce mitotic instability, connexon anomalies and progression of the in vivo behavioral phenotype in transgenic animals expressing a mutated Gjb1 gene.Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth diseaseSyndromic and non-syndromic disease-linked Cx43 mutations.A new mutation in GJC2 associated with subclinical leukodystrophy.Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32Connexinopathies: a structural and functional glimpseAberrant trafficking of a Leu89Pro connexin32 mutant associated with X-linked dominant Charcot-Marie-Tooth disease.How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?Molecular genetics of X-linked Charcot-Marie-Tooth disease.Functional requirement for a highly conserved charged residue at position 75 in the gap junction protein connexin 32.Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.A structural and functional comparison of gap junction channels composed of connexins and innexinsHuman diseases associated with connexin mutations.An amino-terminal lysine residue of rat connexin40 that is required for spermine block.Trifluoroethanol reveals helical propensity at analogous positions in cytoplasmic domains of three connexins.Structural studies of N-terminal mutants of connexin 32 using (1)H NMR spectroscopy.Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.Connexin 32 is involved in mitosis.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
P2860
Q24654250-CBBBDB0F-2C84-48B6-A656-FF4697333629Q26823332-76FF0CD0-1361-4AFA-AC3A-CEF138B83906Q26824841-FF37B025-36C7-4467-BD1E-3F790D6AAB95Q27009167-F9186436-C6D3-40C8-9E4F-2412315D7005Q28473231-C593946C-3205-4E05-90E3-1038B80CB4D6Q32186771-6BC26510-9C93-4481-B4E2-DCEA7F5ABDC5Q33506159-AE2ADEB9-B828-46D9-8D87-D4F0AFE9F2FEQ33750892-43B9BC0E-0B8A-40BC-B182-93EA5DD06A39Q34021416-737F018F-B380-4B9D-BB30-20197BD85034Q34398416-3C32E13E-E600-4C87-8F4C-A55344273C46Q34994055-89B08A12-002E-4C0F-B9F4-29BC613F7B20Q35885518-70AA96AD-DCAE-487F-A6DB-C68894418E21Q36031035-34DA1949-F98B-4B3B-9A30-F7A4843C6350Q36065993-F80E16F8-0163-477D-B030-7E8FBC0F474DQ36368553-9F5E270C-B473-4473-BBCC-F209E8089A2CQ36507155-6FEB425E-80BA-460F-B8FF-CD4E464CD0A2Q36579629-17F26A73-17E0-4145-B96D-861C94D757F7Q37576096-0C1C5483-DF2E-4892-B4C7-285995130CBDQ38292207-2527694C-F672-48D7-A0BD-A31D5946675FQ38942940-5291BB9F-8D13-4990-9CCF-354ADBEFA082Q39273628-D0437E4E-014F-45E4-A7A8-94330DF4F5EFQ40352039-05D2E8A5-6E66-4FBE-B1F5-ED5B232A81A4Q40449866-5BD7A734-77FF-4808-85EF-44ACE0E04CAAQ41892577-674412F6-5B3C-46B9-AF02-EF201D316956Q51089613-F3A764F6-F706-48AE-87E2-AEF2D5B92A84Q52569245-D54D7FD3-E24F-47FF-A495-D8E76230FDBEQ53201872-ED6036A9-5D60-4210-9C6E-A6E12AD7D701Q57176565-02EDDA4C-7B7C-4109-AAA8-BC3819B691BEQ58795702-A7E38868-724B-4068-8D90-FFA72774DE1D
P2860
Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
2001年论文
@zh
2001年论文
@zh-cn
name
Functional alterations in gap ...... f Charcot-Marie-Tooth disease.
@ast
Functional alterations in gap ...... f Charcot-Marie-Tooth disease.
@en
type
label
Functional alterations in gap ...... f Charcot-Marie-Tooth disease.
@ast
Functional alterations in gap ...... f Charcot-Marie-Tooth disease.
@en
prefLabel
Functional alterations in gap ...... f Charcot-Marie-Tooth disease.
@ast
Functional alterations in gap ...... f Charcot-Marie-Tooth disease.
@en
P2093
P2860
P1433
P1476
Functional alterations in gap ...... f Charcot-Marie-Tooth disease.
@en
P2093
C K Abrams
M M Freidin
M V Bennett
T A Bargiello
V K Verselis
P2860
P356
10.1016/S0006-8993(00)03327-8
P407
P577
2001-05-01T00:00:00Z