TBCK syndrome: a rare multi-organ neurodegenerative disease-Reference-Cited by-同舟云学术

TBCK syndrome: a rare multi-organ neurodegenerative disease

Published:2023-10 Issue:10 Volume:29 Page:783-785
ISSN:1471-4914
Container-title:Trends in Molecular Medicine
language:en
Short-container-title:Trends in Molecular Medicine

Author:

Durham Emily L.,Angireddy Rajesh,Black Aaron,Melendez-Perez Ashley,Smith Sarina,Gonzalez Elizabeth M.,Navarro Kristen G.,Díaz Abdias,Bhoj Elizabeth J.K.,Katsura Kaitlin A.

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference13 articles.

1. Multiple functions of TBCK protein in neurodevelopment disorders and tumors (Review);Wu;Oncol. Lett.,2021

2. Mutations in TBCK, encoding TBC1-domain-containing kinase, lead to a recognizable syndrome of intellectual disability and hypotonia;Bhoj;Am. J. Hum. Genet.,2016

3. Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCK encephaloneuronopathy;Tintos-Hernández;Brain Commun.,2021

4. Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review;Sabanathan;Neuromuscul. Disord.,2023

5. Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy;Ortiz-González;Ann. Neurol.,2018

Cited by 2 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. Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago;Neuropediatrics;2024-03-28

2. Functional effects of TBC1 domain containing kinase deletion in immortalized B cells and plasma cells;2023-10-25