Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly-Reference-Cited by-同舟云学术

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Published:2021-01 Issue:2 Volume:109 Page:241-256.e9
ISSN:0896-6273
Container-title:Neuron
language:en
Short-container-title:Neuron

Author:

Chai Guoliang,Webb Alice,Li Chen^ORCID,Antaki Danny^ORCID,Lee Sangmoon,Breuss Martin W.,Lang Nhi,Stanley Valentina,Anzenberg Paula,Yang Xiaoxu,Marshall Trevor,Gaffney Patrick^ORCID,Wierenga Klaas J.,Chung Brian Hon-Yin,Tsang Mandy Ho-Yin,Pais Lynn S.,Lovgren Alysia Kern,VanNoy Grace E.,Rehm Heidi L.,Mirzaa Ghayda^ORCID,Leon Eyby^ORCID,Diaz Jullianne^ORCID,Neumann Alexander^ORCID,Kalverda Arnout P.,Manfield Iain W.,Parry David A.,Logan Clare V.,Johnson Colin A.,Bonthron David T.^ORCID,Valleley Elizabeth M.A.,Issa Mahmoud Y.^ORCID,Abdel-Ghafar Sherif F.,Abdel-Hamid Mohamed S.,Jennings Patricia,Zaki Maha S.,Sheridan Eamonn,Gleeson Joseph G.^ORCID

Funder

National Institutes of Health

Simons Foundation Autism Research Initiative

Publisher

Elsevier BV

Subject

General Neuroscience

Reference79 articles.

1. Nuclear cyclophilins affect spliceosome assembly and function in vitro;Adams;Biochem. J.,2015

2. Semiquantitative proteomic analysis of the human spliceosome via a novel two-dimensional gel electrophoresis method;Agafonov;Mol. Cell. Biol.,2011

3. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder;Akizu;Cell,2013

4. Cryo-EM structure of a human spliceosome activated for step 2 of splicing;Bertram;Nature,2017

5. Characterization of purified human Bact spliceosomal complexes reveals compositional and morphological changes during spliceosome activation and first step catalysis;Bessonov;RNA,2010

Cited by 28 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review;Frontiers in Genetics;2024-02-06

2. Enhancing Recognition and Interpretation of Functional Phenotypic Sequences through Fine-Tuning Pre-Trained Genomic Models;2023-12-07

3. Genetic and prenatal diagnosis of a Chinese pedigree with pathogenic TOE1 variants causing pontocerebellar hypoplasia type 7;The Journal of Maternal-Fetal & Neonatal Medicine;2023-08-27

4. Deletion of ARGLU1 causes global defects in alternative splicing in vivo and mouse cortical malformations primarily via apoptosis;Cell Death & Disease;2023-08-23

5. p53 restoration in small cell lung cancer identifies a latent cyclophilin-dependent necrosis mechanism;Nature Communications;2023-07-21