Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome-Reference-Cited by-同舟云学术

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Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome

Published:2012-11 Issue:4 Volume:428 Page:532-537
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

Huber-Ruano Isabel,Errasti-Murugarren Ekaitz,Godoy Valeria,Vera Ángel,Andreu Antoni L.,Garcia-Arumi Elena,Martí Ramon,Pastor-Anglada Marçal

Funder

Ministerio de Ciencia e Innovación

Generalitat de Catalunya

Instituto de Salud Carlos III

CONICYT

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference22 articles.

1. SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway;Cliffe;Hum. Mol. Genet.,2009

2. The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations;Molho-Pessach;J. Am. Acad. Dermatol.,2008

3. The ENT family of eukaryote nucleoside and nucleobase transporters: recent advances in the investigation of structure/function relationships and the identification of novel isoforms;Hyde;Mol. Membr. Biol.,2001

4. Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3;Govindarajan;Am. J. Physiol. Gastrointest. Liver Physiol.,2009

5. The H syndrome is caused by mutations in the nucleoside transporter hENT3;Molho-Pessach;Am. J. Hum. Genet.,2008

Cited by 10 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. Equilibrative nucleoside transporter 3 supports microglial functions and protects against the progression of Huntington’s disease in the mouse model;Brain, Behavior, and Immunity;2024-08

2. Inborn Errors of Nucleoside Transporter (NT)-Encoding Genes (SLC28 and SLC29);International Journal of Molecular Sciences;2022-08-07

3. Review of the current literature on H syndrome treatment;Journal of Family Medicine and Primary Care;2022

4. Síndrome H: primer caso pediátrico reportado en América Latina;Revista Chilena de Pediatría;2016-11

5. Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report;Current Research in Translational Medicine;2016-04

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