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Multi-system disorder syndromes associated with cystinuria type I.
Curr Mol Med. 2008 Sep;8(6):544-50. doi: 10.2174/156652408785747997.
Curr Mol Med. 2008.
PMID: 18781961
Review.
Recently 3 similar but distinct syndromes associated with cystinuria type I have been described: 2p21 deletion syndrome, Hypotonia-Cystinuria Syndrome (HCS) and atypical HCS. Genetic analysis indicated that these are recessive contiguous gene deletion syndrom …
Recently 3 similar but distinct syndromes associated with cystinuria type I have been described: 2p21 deletion syndrome, Hypotonia- …
Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.
Jaeken J, Martens K, Francois I, Eyskens F, Lecointre C, Derua R, Meulemans S, Slootstra JW, Waelkens E, de Zegher F, Creemers JW, Matthijs G.
Jaeken J, et al.
Am J Hum Genet. 2006 Jan;78(1):38-51. doi: 10.1086/498852. Epub 2005 Nov 23.
Am J Hum Genet. 2006.
PMID: 16385448
Free PMC article.
In 11 patients with a recessive congenital disorder, which we refer to as "the hypotonia-cystinuria syndrome," microdeletion of part of the SLC3A1 and PREPL genes on chromosome 2p21 was found. ...Taken together, these results suggest that PREPL is a novel oli …
In 11 patients with a recessive congenital disorder, which we refer to as "the hypotonia-cystinuria syndrome," microdel …
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Cellular and ultra structural evidence for cytoskeletal localization of prolyl endopeptidase-like protein in neurons.
Morawski M, Nuytens K, Juhasz T, Zeitschel U, Seeger G, Waelkens E, Regal L, Schulz I, Arendt T, Szeltner Z, Creemers J, Rossner S.
Morawski M, et al.
Neuroscience. 2013 Jul 9;242:128-39. doi: 10.1016/j.neuroscience.2013.02.038. Epub 2013 Feb 26.
Neuroscience. 2013.
PMID: 23485813
In order to obtain initial hints about the involvement of PREPL in physiological processes, a differential proteomic screen was performed with human skin fibroblasts from controls and patients with PREPL deficiency (hypotonia-cystinuria syndrome). The majorit …
In order to obtain initial hints about the involvement of PREPL in physiological processes, a differential proteomic screen was performed wi …
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