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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1972 1
1981 1
1983 1
1987 1
1988 1
1989 1
1990 1
1991 1
1995 1
1998 2
1999 3
2000 1
2001 1
2002 1
2003 1
2004 1
2006 2
2008 2
2011 1
2013 1
2017 1
2019 2
2023 1
2024 0

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PubMed (OMIM) for id: 7345

29 results

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Page 1
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Downes SM, Németh AH, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Genet Med. 2023 Oct;25(10):100961. doi: 10.1016/j.gim.2023.100961. Epub 2023 Aug 31. Genet Med. 2023. PMID: 37650884 No abstract available.
Ubiquitin C-terminal hydrolase L1 (UCH-L1) loss causes neurodegeneration by altering protein turnover in the first postnatal weeks.
Reinicke AT, Laban K, Sachs M, Kraus V, Walden M, Damme M, Sachs W, Reichelt J, Schweizer M, Janiesch PC, Duncan KE, Saftig P, Rinschen MM, Morellini F, Meyer-Schwesinger C. Reinicke AT, et al. Proc Natl Acad Sci U S A. 2019 Apr 16;116(16):7963-7972. doi: 10.1073/pnas.1812413116. Epub 2019 Mar 28. Proc Natl Acad Sci U S A. 2019. PMID: 30923110 Free PMC article.
Novel UCHL1 mutations reveal new insights into ubiquitin processing.
Rydning SL, Backe PH, Sousa MML, Iqbal Z, Øye AM, Sheng Y, Yang M, Lin X, Slupphaug G, Nordenmark TH, Vigeland MD, Bjørås M, Tallaksen CM, Selmer KK. Rydning SL, et al. Hum Mol Genet. 2017 Mar 15;26(6):1031-1040. doi: 10.1093/hmg/ddw391. Hum Mol Genet. 2017. PMID: 28007905
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.
Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, Chandra SS, Louvi A, Boggon TJ, Lifton RP, Horwich AL, Gunel M. Bilguvar K, et al. Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3489-94. doi: 10.1073/pnas.1222732110. Epub 2013 Jan 28. Proc Natl Acad Sci U S A. 2013. PMID: 23359680 Free PMC article.
UCHL-1 is not a Parkinson's disease susceptibility gene.
Healy DG, Abou-Sleiman PM, Casas JP, Ahmadi KR, Lynch T, Gandhi S, Muqit MM, Foltynie T, Barker R, Bhatia KP, Quinn NP, Lees AJ, Gibson JM, Holton JL, Revesz T, Goldstein DB, Wood NW. Healy DG, et al. Ann Neurol. 2006 Apr;59(4):627-33. doi: 10.1002/ana.20757. Ann Neurol. 2006. PMID: 16450370
29 results