Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy
about
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairmentRevisiting the tubulin cofactors and Arl2 in the regulation of soluble αβ-tubulin pools and their effect on microtubule dynamics.HIPK2-T566 autophosphorylation diversely contributes to UV- and doxorubicin-induced HIPK2 activation.A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.Reply: PRUNE1: a disease-causing gene for secondary microcephaly.Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutationsA Trimer Consisting of the Tubulin-specific Chaperone D (TBCD), Regulatory GTPase ARL2, and β-Tubulin Is Required for Maintaining the Microtubule Network.Nucleotide Binding to ARL2 in the TBCD∙ARL2∙β-Tubulin Complex Drives Conformational Changes in β-Tubulin.Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.
P2860
Q32884505-EB2586BE-1430-4BF7-8D5A-5528FD0B2C00Q37686815-EBE6FDF2-BE3E-43BB-83B6-078C473BDC0FQ37725509-CA2CFA12-96BF-4A05-A91B-869CAFD39B97Q38646195-CAE1BAD1-81F0-4E48-97C2-82FEEE109ECDQ41918185-0C1B221C-F77E-4F11-9E4E-EAA8812E35CBQ41921847-7D51C524-20DC-41E2-81F6-F5871992B232Q42236974-46BC9272-2AC9-475E-B648-1D90C0D2CFABQ42803416-B30D1B96-6309-4893-B3BF-1CA3BB9BD796Q47712841-018174A6-B5D5-4BBD-9E0E-A0FFF8FB2A8DQ48116911-069850BF-642C-42BD-998B-9F1BBF13A58AQ48116923-B4857025-F18D-434D-A008-C4BB3151A68AQ48175460-7301F062-97BA-4DAD-981D-B574BC16AEE3Q52657549-4B940B11-832A-4B1A-9C51-0B2E561DE0A1Q55235473-E3C88828-2295-4AD4-BADC-9A3600A81D7A
P2860
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy
description
2016 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2016
@ast
im Oktober 2016 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
wetenschappelijk artikel (gepubliceerd op 2016/10/06)
@nl
наукова стаття, опублікована в жовтні 2016
@uk
مقالة علمية (نشرت في 6-10-2016)
@ar
name
Biallelic Mutations in TBCD, E ...... use Early-Onset Encephalopathy
@ast
Biallelic Mutations in TBCD, E ...... use Early-Onset Encephalopathy
@en
type
label
Biallelic Mutations in TBCD, E ...... use Early-Onset Encephalopathy
@ast
Biallelic Mutations in TBCD, E ...... use Early-Onset Encephalopathy
@en
prefLabel
Biallelic Mutations in TBCD, E ...... use Early-Onset Encephalopathy
@ast
Biallelic Mutations in TBCD, E ...... use Early-Onset Encephalopathy
@en
P2093
P2860
P50
P1476
Biallelic Mutations in TBCD, E ...... use Early-Onset Encephalopathy
@en
P2093
Alessandro Capuano
Anna A. Ivanova
Balasubramanian Chandramouli
Carol J. Saunders
Charlotte A. Haaxma
David A. Koolen
Emanuela Piermarini
Emily Farrow
Ganka V. Douglas
Giovanna Carpentieri
P2860
P304
P356
10.1016/J.AJHG.2016.08.003
P407
P50
P577
2016-10-06T00:00:00Z