Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy-Reference-Cited by-同舟云学术

Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy

Published:2024-05-30 Issue:8 Volume:32 Page:947-953
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Riley Lisa G.,Sabui Subrata,Said Hamid M.,Niaz Aram^ORCID,Girisha Katta M.^ORCID,Radhakrishnan Periyasamy,Nampoothiri Sheela^ORCID,Yesodharan Dhanya,Kilo Tatjana,Smith Janine,Wong Rachel S. H.,Menezes Manoj P.,Gupta Sachin,Cooper Sandra T.^ORCID,Balasubramaniam Shanti

Funder

Luminesce Alliance- Innovation for Children’s Health. NSW Government, Australia

U.S. Department of Veterans Affairs

U.S. Department of Health & Human Services | NIH | Office of Extramural Research, National Institutes of Health

U.S. Department of Health & Human Services | National Institutes of Health

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41431-024-01641-8.pdf

Reference23 articles.

1. Balamurugan K, Ortiz A, Said HM. Biotin uptake by human intestinal and liver epithelial cells: role of the SMVT system. Am J Physiol Gastrointest Liver Physiol. 2003;285:G73–77.

2. Uchida Y, Ito K, Ohtsuki S, Kubo Y, Suzuki T, Terasaki T. Major involvement of Na(+) -dependent multivitamin transporter (SLC5A6/SMVT) in uptake of biotin and pantothenic acid by human brain capillary endothelial cells. J Neurochem. 2015;134:97–112.

3. Subramanian VS, Constantinescu AR, Benke PJ, Said HM. Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. Hum Genet. 2017;136:253–61.

4. Schwantje M, de Sain-van der Velden M, Jans J, van Gassen K, Dorrepaal C, Koop K, et al. Genetic defect of the sodium-dependent multivitamin transporter: a treatable disease, mimicking biotinidase deficiency. JIMD Rep. 2019;48:11–14.

5. Byrne AB, Arts P, Polyak SW, Feng J, Schreiber AW, Kassahn KS, et al. Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6. NPJ Genom Med. 2019;4:28.

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1. Summer reading in EJHG;European Journal of Human Genetics;2024-07-31