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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2008 | 1 |
2012 | 1 |
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2017 | 1 |
2021 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 55753
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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Am J Hum Genet. 2021 Dec 2;108(12):2368-2384. doi: 10.1016/j.ajhg.2021.11.003. Epub 2021 Nov 19.
Am J Hum Genet. 2021.
PMID: 34800363
Free PMC article.
Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.
Yoon WH, Sandoval H, Nagarkar-Jaiswal S, Jaiswal M, Yamamoto S, Haelterman NA, Putluri N, Putluri V, Sreekumar A, Tos T, Aksoy A, Donti T, Graham BH, Ohno M, Nishi E, Hunter J, Muzny DM, Carmichael J, Shen J, Arboleda VA, Nelson SF, Wangler MF, Karaca E, Lupski JR, Bellen HJ.
Yoon WH, et al.
Neuron. 2017 Jan 4;93(1):115-131. doi: 10.1016/j.neuron.2016.11.038. Epub 2016 Dec 22.
Neuron. 2017.
PMID: 28017472
Free PMC article.
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OGDHL is a modifier of AKT-dependent signaling and NF-κB function.
Sen T, Sen N, Noordhuis MG, Ravi R, Wu TC, Ha PK, Sidransky D, Hoque MO.
Sen T, et al.
PLoS One. 2012;7(11):e48770. doi: 10.1371/journal.pone.0048770. Epub 2012 Nov 12.
PLoS One. 2012.
PMID: 23152800
Free PMC article.
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Structure-function relationships in the 2-oxo acid dehydrogenase family: substrate-specific signatures and functional predictions for the 2-oxoglutarate dehydrogenase-like proteins.
Bunik VI, Degtyarev D.
Bunik VI, et al.
Proteins. 2008 May 1;71(2):874-90. doi: 10.1002/prot.21766.
Proteins. 2008.
PMID: 18004749
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Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T, Ishikawa K, Kikuno R, Hirosawa M, Nomura N, Ohara O.
Nagase T, et al.
DNA Res. 1999 Oct 29;6(5):337-45. doi: 10.1093/dnares/6.5.337.
DNA Res. 1999.
PMID: 10574462
Free article.
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