Literature DB >> 32663648

Disrupted oxidative stress resistance: A homozygous mutation in the catalytic (TLDc) domain of TBC1D24 gene associated with epileptic encephalopathy.

Tuğçe Aksu Uzunhan1, Bülent Uyanik2.   

Abstract

Entities:  

Keywords:  Early infantile epileptic encephalopathy; Myoclonic epilepsy; Oxidative stress resistance; TBC1D24; Vesicle trafficking

Mesh：

Substances：

Year:  2020        PMID： 32663648     DOI： 10.1016/j.clineuro.2020.106080

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN： 0303-8467            Impact factor:   1.876


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  2 in total

Review 1.  Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.

Authors:  Giulia Spoto; Giulia Valentini; Maria Concetta Saia; Ambra Butera; Greta Amore; Vincenzo Salpietro; Antonio Gennaro Nicotera; Gabriella Di Rosa
Journal:  Front Neurol       Date:  2022-03-08       Impact factor: 4.003

2.  Crystal structure of the TLDc domain of human NCOA7-AS.

Authors:  Mary Arnaud-Arnould; Marine Tauziet; Olivier Moncorgé; Caroline Goujon; Mickaël Blaise
Journal:  Acta Crystallogr F Struct Biol Commun       Date:  2021-07-28       Impact factor: 1.056
  2 in total

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