PubMed for id: 26275

Year	Number of Results
1994	1
1996	1
2001	1
2002	1
2003	1
2004	2
2005	1
2006	2
2007	2
2008	1
2010	2
2011	1
2012	1
2013	2
2015	2
2016	2
2017	1
2018	1
2019	3
2020	5
2021	4
2022	4
2023	1
2024	0

1

Targeting HIBCH to reprogram valine metabolism for the treatment of colorectal cancer.

Shan Y, Gao Y, Jin W, Fan M, Wang Y, Gu Y, Shan C, Sun L, Li X, Yu B, Luo Q, Xu Q. Shan Y, et al. Cell Death Dis. 2019 Aug 13;10(8):618. doi: 10.1038/s41419-019-1832-6. Cell Death Dis. 2019. PMID: 31409769 Free PMC article.

2

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

Schottmann G, Sarpong A, Lorenz C, Weinhold N, Gill E, Teschner L, Ferdinandusse S, Wanders RJ, Prigione A, Schuelke M. Schottmann G, et al. Mov Disord. 2016 Nov;31(11):1733-1739. doi: 10.1002/mds.26704. Epub 2016 Jul 12. Mov Disord. 2016. PMID: 27400804

3

A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin.

Molloy AM, Pangilinan F, Mills JL, Shane B, O'Neill MB, McGaughey DM, Velkova A, Abaan HO, Ueland PM, McNulty H, Ward M, Strain JJ, Cunningham C, Casey M, Cropp CD, Kim Y, Bailey-Wilson JE, Wilson AF, Brody LC. Molloy AM, et al. Am J Hum Genet. 2016 May 5;98(5):869-882. doi: 10.1016/j.ajhg.2016.03.005. Epub 2016 Apr 28. Am J Hum Genet. 2016. PMID: 27132595 Free PMC article.

4

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.

Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S. Ferdinandusse S, et al. Orphanet J Rare Dis. 2013 Dec 4;8:188. doi: 10.1186/1750-1172-8-188. Orphanet J Rare Dis. 2013. PMID: 24299452 Free PMC article.

5

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.

Loupatty FJ, Clayton PT, Ruiter JP, Ofman R, Ijlst L, Brown GK, Thorburn DR, Harris RA, Duran M, Desousa C, Krywawych S, Heales SJ, Wanders RJ. Loupatty FJ, et al. Am J Hum Genet. 2007 Jan;80(1):195-9. doi: 10.1086/510725. Epub 2006 Nov 30. Am J Hum Genet. 2007. PMID: 17160907 Free PMC article.

6

Human liver disease decreases methacrylyl-CoA hydratase and beta-hydroxyisobutyryl-CoA hydrolase activities in valine catabolism.

Ishigure K, Shimomura Y, Murakami T, Kaneko T, Takeda S, Inoue S, Nomoto S, Koshikawa K, Nonami T, Nakao A. Ishigure K, et al. Clin Chim Acta. 2001 Oct;312(1-2):115-21. doi: 10.1016/s0009-8981(01)00597-6. Clin Chim Acta. 2001. PMID: 11580916

7

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, González-Gutiérrez-Solana L, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz-Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch R, Macaya A, Pérez-Dueñas B. Marti-Sanchez L, et al. J Inherit Metab Dis. 2021 Mar;44(2):401-414. doi: 10.1002/jimd.12288. Epub 2020 Aug 16. J Inherit Metab Dis. 2021. PMID: 32677093

8

Primary structure and tissue-specific expression of human beta-hydroxyisobutyryl-coenzyme A hydrolase.

Hawes JW, Jaskiewicz J, Shimomura Y, Huang B, Bunting J, Harper ET, Harris RA. Hawes JW, et al. J Biol Chem. 1996 Oct 18;271(42):26430-4. doi: 10.1074/jbc.271.42.26430. J Biol Chem. 1996. PMID: 8824301 Free article.

9

A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B₁₂ status (cB₁₂) and connects B₁₂ status with utilization of mitochondrial substrates and energy metabolism.

Dalmia A, Dib MJ, Maude H, Harrington DJ, Sobczyńska-Malefora A, Andrew T, Ahmadi KR. Dalmia A, et al. J Nutr Biochem. 2019 Aug;70:156-163. doi: 10.1016/j.jnutbio.2019.04.008. Epub 2019 May 14. J Nutr Biochem. 2019. PMID: 31203192 Free article.

10

Proteomic dissection of cell type-specific H2AX-interacting protein complex associated with hepatocellular carcinoma.

Yang X, Zou P, Yao J, Yun D, Bao H, Du R, Long J, Chen X. Yang X, et al. J Proteome Res. 2010 Mar 5;9(3):1402-15. doi: 10.1021/pr900932y. J Proteome Res. 2010. PMID: 20000738 Free PMC article.

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