Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development-Reference-Cited by-同舟云学术

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Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development

Published:2017-09 Issue:3 Volume:101 Page:428-440
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Ivanova Ekaterina L.,Mau-Them Frédéric Tran,Riazuddin Saima,Kahrizi Kimia,Laugel Vincent,Schaefer Elise,de Saint Martin Anne,Runge Karen,Iqbal Zafar,Spitz Marie-Aude,Laura Mary,Drouot Nathalie,Gérard Bénédicte,Deleuze Jean-François,de Brouwer Arjan P.M.,Razzaq Attia,Dollfus Hélène,Assir Muhammad Zaman,Nitchké Patrick,Hinckelmann Maria-Victoria,Ropers Hilger,Riazuddin Sheikh,Najmabadi Hossein,van Bokhoven Hans,Chelly Jamel

Funder

Strasbourg University

Agence Nationale de la Recherche

frame program Investissements d’Avenir

Fondation pour la Recherche Médicale

Fondation Maladies Rares

Agence Nationale de Recherche

EU-FP7

GENECODYS

DESIRE

Iranian National Science Foundation

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference33 articles.

1. Pontocerebellar hypoplasia;Rudnik-Schöneborn;Am. J. Med. Genet. C. Semin. Med. Genet.,2014

2. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations;Eggens;Orphanet J. Rare Dis.,2014

3. The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism;Vinograd-Byk;J. Neurosci.,2015

4. TSEN54 mutations cause pontocerebellar hypoplasia type 5;Namavar;Eur. J. Hum. Genet.,2011

5. Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate;Anttonen;Neurology,2015

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1. The WDR11 complex is a receptor for acidic-cluster-containing cargo proteins;Cell;2024-08

2. Anomalies of Midbrain/Hindbrain Development and Related Disabilities: Pontocerebellar Hypoplasia, Congenital Disorders of Glycosylation, and Cerebellar Hemisphere Hypoplasia;Journal of Pediatric Neurology;2024-05-29

3. Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study;The Cerebellum;2024-04-15

4. Cargo selective vesicle tethering: The structural basis for binding of specific cargo proteins by the Golgi tether component TBC1D23;Science Advances;2024-03-29

5. TBC1D23 mediates Golgi-specific LKB1 signaling;Nature Communications;2024-02-27

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