Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants-Reference-Cited by-同舟云学术

Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants

Published:2023-05 Issue:5 Volume:45 Page:270-277
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Watanabe Shiena^ORCID,Lei Ming,Nakagawa Eiji^ORCID,Takeshita Eri^ORCID,Inamori Kei-Ichiro^ORCID,Shishido Fumi,Sasaki Masayuki^ORCID,Mitsuhashi Satomi,Matsumoto Naomichi,Kimura Yuiko,Iwasaki Masaki^ORCID,Takahashi Yuji,Mizusawa Hidehiro,Migita Ohsuke,Ohno Isao,Inokuchi Jin-ichi

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference24 articles.

1. Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase;Simpson;Nat Genet,2004

2. Congenital Disorders of Glycosylation from a Neurological Perspective;Paprocka;Brain Sci,2021

3. Gangliosides: glycosphingolipids essential for normal neural development and function;Schengrund;Trends Biochem Sci,2015

4. Gangliosides of the vertebrate nervous system;Schnaar;J Mol Biol,2016

5. Sex-Specific ADHD-like behaviour, altered metabolic functions, and altered EEG activity in sialyltransferase ST3GAL5-deficient mice;Strekalova;Biomolecules,2021

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1. Dietary gangliosides rescue GM3 synthase deficiency outcomes in mice accompanied by neurogenesis in the hippocampus;Frontiers in Neuroscience;2024-07-25

2. Antiepileptics;Reactions Weekly;2024-06-29

3. Human genetic defects of sphingolipid synthesis;Journal of Inherited Metabolic Disease;2024-05-05

4. Surgical treatment of movement disorders in neurometabolic conditions;Frontiers in Neurology;2023-06-02