Publications:

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Infantile Neurodegeneration Results from Mutants of 17β-Hydroxysteroid Dehydrogenase Type 10 Rather Than Aβ-Binding Alcohol Dehydrogenase.

International Journal Of Molecular Sciences

He, Xue-Ying XY; Dobkin, Carl C; Brown, William Ted WT; Yang, Song-Yu SY

Publication Date: 2023-05-09

Variant appearance in text: HSD17B10: Leu122Val

PubMed Link: 37239833

Variant Present in the following documents:

• ijms-24-08487.pdf

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HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.

Molecular Genetics & Genomic Medicine

Waters, Paula J PJ; Lace, Baiba B; Buhas, Daniela D; Gravel, Serge S; Cyr, Denis D; Boucher, Renée-Myriam RM; Bernard, Geneviève G; Lévesque, Sébastien S; Maranda, Bruno B

Publication Date: 2019-12

Variant appearance in text: HSD17B10: 364C>G

PubMed Link: 31654490

Variant Present in the following documents:

• Main text
• MGG3-7-e1000.pdf

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW

Publication Date: 2017-12

Variant appearance in text: HSD17B10: L122V; rs28935476

PubMed Link: 28471432

Variant Present in the following documents:

• gim201750x2.xlsx, sheet 3

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: HSD17B10: 364C>G

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

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Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.

Jimd Reports

Akagawa, Shohei S; Fukao, Toshiyuki T; Akagawa, Yuko Y; Sasai, Hideo H; Kohdera, Urara U; Kino, Minoru M; Shigematsu, Yosuke Y; Aoyama, Yuka Y; Kaneko, Kazunari K

Publication Date: 2017

Variant appearance in text: HSD17B10: L122V

PubMed Link: 27306202

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.

Jimd Reports

Richardson, Annely A; Berry, Gerard T GT; Garganta, Cheryl C; Abbott, Mary-Alice MA

Publication Date: 2017

Variant appearance in text: HSD17B10: 364C>G

PubMed Link: 27295195

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.

Rna Biology

Falk, Marni J MJ; Gai, Xiaowu X; Shigematsu, Megumi M; Vilardo, Elisa E; Takase, Ryuichi R; McCormick, Elizabeth E; Christian, Thomas T; Place, Emily E; Pierce, Eric A EA; Consugar, Mark M; Gamper, Howard B HB; Rossmanith, Walter W; Hou, Ya-Ming YM

Publication Date: 2016-05-03

Variant appearance in text: HSD17B10: L122V

PubMed Link: 26950678

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: MHBD: L122V; rs28935476

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: HSD17B10: L122V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

American Journal Of Human Genetics

Ofman, Rob R; Ruiter, Jos P N JP; Feenstra, Marike M; Duran, Marinus M; Poll-The, Bwee Tien BT; Zschocke, Johannes J; Ensenauer, Regina R; Lehnert, Willy W; Sass, Jörn Oliver JO; Sperl, Wolfgang W; Wanders, Ronald J A RJ

Publication Date: 2003-05

Variant appearance in text: MHBD: L122V

PubMed Link: 12696021

Variant Present in the following documents:

• Main text

View BVdb publication page

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