Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.
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ATP7A-related copper transport diseases-emerging concepts and future trendsSh3tc2 deficiency affects neuregulin-1/ErbB signalingHaplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial HypertensionComputational analysis of missense mutations causing Snyder-Robinson syndromeMutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways.The myotubularin family of lipid phosphatases in disease and in spermatogenesisTypes and effects of protein variations.Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cellsMolecular genetics of charcot-marie-tooth disease: from genes to genomes.Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes.Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C.Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.Demyelinating prenatal and infantile developmental neuropathies.Neural and molecular features on Charcot-Marie-Tooth disease plasticity and therapy.Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease.Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4CNerve Biopsy Is Still Useful in Some Inherited Neuropathies.Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation.Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.Congenital hypomyelinating neuropathy due to a novel MPZ mutation
P2860
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P2860
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.
description
2009 nî lūn-bûn
@nan
2009 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Missense mutations in the SH3T ...... embrane and endocytic pathway.
@ast
Missense mutations in the SH3T ...... embrane and endocytic pathway.
@en
type
label
Missense mutations in the SH3T ...... embrane and endocytic pathway.
@ast
Missense mutations in the SH3T ...... embrane and endocytic pathway.
@en
prefLabel
Missense mutations in the SH3T ...... embrane and endocytic pathway.
@ast
Missense mutations in the SH3T ...... embrane and endocytic pathway.
@en
P2860
P50
P356
P1476
Missense mutations in the SH3T ...... membrane and endocytic pathway
@en
P2093
Teresa Sevilla
P2860
P304
P356
10.1093/HMG/DDP427
P577
2009-09-10T00:00:00Z