Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder-Reference-Cited by-同舟云学术

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Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder

Published:2019-09-25 Issue:11-12 Volume:138 Page:1259-1266
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Okur Volkan,Watschinger Katrin,Niyazov Dmitriy,McCarrier Julie,Basel Donald,Hermann Martin,Werner Ernst R.,Chung Wendy K.

Funder

Austrian Science Fund

Simons Foundation Autism Research Initiative

JPB Foundation

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-019-02065-x.pdf

Reference11 articles.

1. Alrayes N, Mohamoud HS, Ahmed S, Almramhi MM, Shuaib TM, Wang J, Al-Aama JY, Everett K, Nasir J, Jelani M (2016) The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family. J Neurol Sci 363:240–244. https://doi.org/10.1016/j.jns.2016.02.063

2. Consortium G (2015) Human genomics. The genotype-tissue expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science 348:648–660. https://doi.org/10.1126/science.1262110

3. Dorninger F, Forss-Petter S, Berger J (2017) From peroxisomal disorders to common neurodegenerative diseases—the role of ether phospholipids in the nervous system. FEBS Lett 591:2761–2788. https://doi.org/10.1002/1873-3468.12788

4. Keller MA, Zander U, Fuchs JE, Kreutz C, Watschinger K, Mueller T, Golderer G, Liedl KR, Ralser M, Krautler B, Werner ER, Marquez JA (2014) A gatekeeper helix determines the substrate specificity of Sjogren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase. Nat Commun 5:4439. https://doi.org/10.1038/ncomms5439

5. Marquet S, Bucheton B, Reymond C, Argiro L, El-Safi SH, Kheir MM, Desvignes JP, Beroud C, Mergani A, Hammad A, Dessein AJ (2017) Exome sequencing identifies two variants of the alkylglycerol monooxygenase gene as a cause of relapses in visceral leishmaniasis in children, in Sudan. J Infect Dis 216:22–28. https://doi.org/10.1093/infdis/jix277

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