Literature DB >> 30898414

TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery.

Dulika Sumathipala1, Petter Strømme2, Christian Gilissen3, Jordi Corominas3, Eirik Frengen1, Doriana Misceo4.   

Abstract

Entities:  

Keywords:  GM2 ganglioside; IHPRF3; TBCK; WGS

Mesh：

Substances：

Year:  2019        PMID： 30898414     DOI： 10.1016/j.pediatrneurol.2019.02.001

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


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  4 in total

1.  Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK.

Authors:  Simona Saredi; Edmund S Cauley; Alessandra Ruggieri; Tyler M Spivey; Anna Ardissone; Marina Mora; Isabella Moroni; M Chiara Manzini
Journal:  Muscle Nerve       Date:  2020-05-27       Impact factor: 3.217

Review 2.  Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract.

Authors:  Rik Westland; Kirsten Y Renkema; Nine V A M Knoers
Journal:  Clin J Am Soc Nephrol       Date:  2020-04-20       Impact factor: 8.237

3.  Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport.

Authors:  Danielle de Paula Moreira; Angela May Suzuki; André Luiz Teles E Silva; Elisa Varella-Branco; Maria Cecília Zorél Meneghetti; Gerson Shigeru Kobayashi; Mariana Fogo; Merari de Fátima Ramires Ferrari; Rafaela Regina Cardoso; Naila Cristina Vilaça Lourenço; Karina Griesi-Oliveira; Elaine Cristina Zachi; Débora Romeo Bertola; Karina de Souza Weinmann; Marcelo Andrade de Lima; Helena Bonciani Nader; Andrea Laurato Sertié; Maria Rita Passos-Bueno
Journal:  Front Cell Neurosci       Date:  2022-01-13       Impact factor: 5.505

4.  Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCK encephaloneuronopathy.

Authors:  Jesus A Tintos-Hernández; Adrian Santana; Kierstin N Keller; Xilma R Ortiz-González
Journal:  Brain Commun       Date:  2021-09-16
  4 in total

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