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: R130C

PubMed Link: 37239833

Variant Present in the following documents:

• Main text
• ijms-24-08487.pdf

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ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.

Cellular And Molecular Life Sciences : Cmls

Wohlfarter, Yvonne Y; Eidelpes, Reiner R; Yu, Ryan D RD; Sailer, Sabrina S; Koch, Jakob J; Karall, Daniela D; Scholl-Bürgi, Sabine S; Amberger, Albert A; Hillen, Hauke S HS; Zschocke, Johannes J; Keller, Markus A MA

Publication Date: 2022-10-22

Variant appearance in text: HSD17B10: R130C

PubMed Link: 36271951

Variant Present in the following documents:

• Main text
• 18_2022_Article_4579.pdf

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HSD10 disease in a female: A case report and review of literature.

Jimd Reports

Upadia, Jariya J; Walano, Nicolette N; Noh, Grace S GS; Liu, Jiao J; Li, Yuwen Y; Deputy, Stephen S; Elliott, Lindsay T LT; Wong, Joaquin J; Lee, Jennifer A JA; Caylor, Raymond C RC; Andersson, Hans C HC

Publication Date: 2021-11

Variant appearance in text: HSD17B10: 388C>T

PubMed Link: 34765396

Variant Present in the following documents:

• Main text
• JMD2-62-35.pdf

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Comparative Metabolomics Reveals the Microenvironment of Common T-Helper Cells and Differential Immune Cells Linked to Unique Periapical Lesions.

Frontiers In Immunology

Altaie, Alaa Muayad AM; Venkatachalam, Thenmozhi T; Samaranayake, Lakshman P LP; Soliman, Sameh S M SSM; Hamoudi, Rifat R

Publication Date: 2021

Variant appearance in text: rs28935475

PubMed Link: 34539639

Variant Present in the following documents:

• Main text

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Structural basis of RNA processing by human mitochondrial RNase P.

Nature Structural & Molecular Biology

Bhatta, Arjun A; Dienemann, Christian C; Cramer, Patrick P; Hillen, Hauke S HS

Publication Date: 2021-09

Variant appearance in text: HSD17B10: R130C

PubMed Link: 34489609

Variant Present in the following documents:

• 41594_2021_637_MOESM3_ESM.pdf

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Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.

Journal Of Inherited Metabolic Disease

Ogawa, Erika E; Fushimi, Takuya T; Ogawa-Tominaga, Minako M; Shimura, Masaru M; Tajika, Makiko M; Ichimoto, Keiko K; Matsunaga, Ayako A; Tsuruoka, Tomoko T; Ishige, Mika M; Fuchigami, Tatsuo T; Yamazaki, Taro T; Kishita, Yoshihito Y; Kohda, Masakazu M; Imai-Okazaki, Atsuko A; Okazaki, Yasushi Y; Morioka, Ichiro I; Ohtake, Akira A; Murayama, Kei K

Publication Date: 2020-07

Variant appearance in text: HSD17B10: 388C>T; R130C

PubMed Link: 31967322

Variant Present in the following documents:

• JIMD-43-819-s004.xlsx, sheet 1

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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: 388C>T

PubMed Link: 31654490

Variant Present in the following documents:

• Main text
• MGG3-7-e1000.pdf

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Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.

Molecular Genetics And Metabolism Reports

Stepien, Karolina M KM; McCarthy, Philomena P; Treacy, Eileen P EP; O'Byrne, James J JJ; Pastores, Gregory M GM

Publication Date: 2018-09

Variant appearance in text: HADH2: Arg130Cys

PubMed Link: 30013934

Variant Present in the following documents:

• Main text
• main.pdf

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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: 388C>T

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: R130C

PubMed Link: 27306202

Variant Present in the following documents:

• Main text

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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: 388C>T

PubMed Link: 27295195

Variant Present in the following documents:

• Main text

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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: SDR5C1: R130C

PubMed Link: 26950678

Variant Present in the following documents:

• Main text

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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: R130C; rs28935475

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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The RNA-binding proteomes from yeast to man harbour conserved enigmRBPs.

Nature Communications

Beckmann, Benedikt M BM; Horos, Rastislav R; Fischer, Bernd B; Castello, Alfredo A; Eichelbaum, Katrin K; Alleaume, Anne-Marie AM; Schwarzl, Thomas T; Curk, Tomaž T; Foehr, Sophia S; Huber, Wolfgang W; Krijgsveld, Jeroen J; Hentze, Matthias W MW

Publication Date: 2015-12-03

Variant appearance in text: HSD17B10: R130C

PubMed Link: 26632259

Variant Present in the following documents:

• ncomms10127.pdf

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Myxococcus CsgA, Drosophila Sniffer, and human HSD10 are cardiolipin phospholipases.

Genes & Development

Boynton, Tye O'Hara TO; Shimkets, Lawrence Joseph LJ

Publication Date: 2015-09-15

Variant appearance in text: HSD17B10: R130C

PubMed Link: 26338420

Variant Present in the following documents:

• Main text

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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: R130C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Mitochondrial transcript maturation and its disorders.

Journal Of Inherited Metabolic Disease

Van Haute, Lindsey L; Pearce, Sarah F SF; Powell, Christopher A CA; D'Souza, Aaron R AR; Nicholls, Thomas J TJ; Minczuk, Michal M

Publication Date: 2015-07

Variant appearance in text: MRPP2: R130C

PubMed Link: 26016801

Variant Present in the following documents:

• Main text
• 10545_2015_Article_9859.pdf

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Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.

Nucleic Acids Research

Vilardo, Elisa E; Rossmanith, Walter W

Publication Date: 2015-05-26

Variant appearance in text: SDR5C1: R130C

PubMed Link: 25925575

Variant Present in the following documents:

• Main text

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Parkin maintains mitochondrial levels of the protective Parkinson's disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10.

Cell Death And Differentiation

Bertolin, G G; Jacoupy, M M; Traver, S S; Ferrando-Miguel, R R; Saint Georges, T T; Grenier, K K; Ardila-Osorio, H H; Muriel, M-P MP; Takahashi, H H; Lees, A J AJ; Gautier, C C; Guedin, D D; Coge, F F; Fon, E A EA; Brice, A A; Corti, O O

Publication Date: 2015-10

Variant appearance in text: HSD17B10: R130C

PubMed Link: 25591737

Variant Present in the following documents:

• Main text

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Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.

Mitochondrion

Chatfield, Kathryn C KC; Coughlin, Curtis R CR; Friederich, Marisa W MW; Gallagher, Renata C RC; Hesselberth, Jay R JR; Lovell, Mark A MA; Ofman, Rob R; Swanson, Michael A MA; Thomas, Janet A JA; Wanders, Ronald J A RJ; Wartchow, Eric P EP; Van Hove, Johan L K JL

Publication Date: 2015-03

Variant appearance in text: MHBD: 388C>T

PubMed Link: 25575635

Variant Present in the following documents:

• Main text

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A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.

Plos One

Seaver, Laurie H LH; He, Xue-Ying XY; Abe, Keith K; Cowan, Tina T; Enns, Gregory M GM; Sweetman, Lawrence L; Philipp, Manfred M; Lee, Sansan S; Malik, Mazhar M; Yang, Song-Yu SY

Publication Date: 2011

Variant appearance in text: HSD17B10: 388C>T

PubMed Link: 22132097

Variant Present in the following documents:

• Main text
• pone.0027348.pdf

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A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.

Embo Molecular Medicine

Rauschenberger, Katharina K; Schöler, Katja K; Sass, Jörn Oliver JO; Sauer, Sven S; Djuric, Zdenka Z; Rumig, Cordula C; Wolf, Nicole I NI; Okun, Jürgen G JG; Kölker, Stefan S; Schwarz, Heinz H; Fischer, Christine C; Grziwa, Beate B; Runz, Heiko H; Nümann, Astrid A; Shafqat, Naeem N; Kavanagh, Kathryn L KL; Hämmerling, Günter G; Wanders, Ronald J A RJ; Shield, Julian P H JP; Wendel, Udo U; Stern, David D; Nawroth, Peter P; Hoffmann, Georg F GF; Bartram, Claus R CR; Arnold, Bernd B; Bierhaus, Angelika A; Oppermann, Udo U; Steinbeisser, Herbert H; Zschocke, Johannes J

Publication Date: 2010-02

Variant appearance in text: MHBD: 388C>T

PubMed Link: 20077426

Variant Present in the following documents:

• Main text
• emmm0002-0051-SD1.pdf
• emmm0002-0051.pdf

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Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Yang, Song-Yu SY; He, Xue-Ying XY; Olpin, Simon E SE; Sutton, Vernon R VR; McMenamin, Joe J; Philipp, Manfred M; Denman, Robert B RB; Malik, Mazhar M

Publication Date: 2009-09-01

Variant appearance in text: HSD17B10: R130C

PubMed Link: 19706438

Variant Present in the following documents:

• Main text

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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: R130C

PubMed Link: 12696021

Variant Present in the following documents:

• Main text

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