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Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.
Langer Y, Aran A, Gulsuner S, Abu Libdeh B, Renbaum P, Brunetti D, Teixeira PF, Walsh T, Zeligson S, Ruotolo R, Beeri R, Dweikat I, Shahrour M, Weinberg-Shukron A, Zahdeh F, Baruffini E, Glaser E, King MC, Levy-Lahad E, Zeviani M, Segel R. Langer Y, et al. J Med Genet. 2018 Sep;55(9):599-606. doi: 10.1136/jmedgenet-2018-105330. Epub 2018 May 15. J Med Genet. 2018. PMID: 29764912 Free article.
RESULTS: Two brothers from a consanguineous Palestinian family presented with progressive spinocerebellar ataxia, mental retardation and psychotic episodes. Serial brain imaging showed severe progressive cerebellar atrophy. Whole exome sequencing revealed a novel mutation: …
RESULTS: Two brothers from a consanguineous Palestinian family presented with progressive spinocerebellar ataxia, mental retardation and psy …
Identification of putative SNPs in progressive retinal atrophy affected Canis lupus familiaris using exome sequencing.
Reddy B, Kelawala DN, Shah T, Patel AB, Patil DB, Parikh PV, Patel N, Parmar N, Mohapatra AB, Singh KM, Menon R, Pandya D, Jakhesara SJ, Koringa PG, Rao MV, Joshi CG. Reddy B, et al. Mamm Genome. 2015 Dec;26(11-12):638-49. doi: 10.1007/s00335-015-9607-6. Epub 2015 Oct 29. Mamm Genome. 2015. PMID: 26515695
Progressive retinal atrophy (PRA) is one of the major causes of retinal photoreceptor cell degeneration in canines. ...Interestingly, six among them were non-synonymous coding (NSC) SNPs, which includes CPPED1 A>G (p.M307V), PITRM1 T>G (p.S715A), APP G>A (p …
Progressive retinal atrophy (PRA) is one of the major causes of retinal photoreceptor cell degeneration in canines. ...Interestingly, …