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Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis.
Gaspar P, Kallemeijn WW, Strijland A, Scheij S, Van Eijk M, Aten J, Overkleeft HS, Balreira A, Zunke F, Schwake M, Sá Miranda C, Aerts JM. Gaspar P, et al. J Lipid Res. 2014 Jan;55(1):138-45. doi: 10.1194/jlr.M043802. Epub 2013 Nov 8. J Lipid Res. 2014. PMID: 24212238 Free PMC article.
Lysosomal integral membrane protein-2 (LIMP2) mediates trafficking of glucocerebrosidase (GBA) to lysosomes. Deficiency of LIMP2 causes action myoclonus-renal failure syndrome (AMRF). LIMP2-deficient fibroblasts virtually lack GBA like the cells …
Lysosomal integral membrane protein-2 (LIMP2) mediates trafficking of glucocerebrosidase (GBA) to lysosomes. Deficiency of LIMP2 causes a …
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, Power DA, Tassinari CA, Andermann E, Lehesjoki AE, Berkovic SF. Dibbens LM, et al. Ann Neurol. 2009 Oct;66(4):532-6. doi: 10.1002/ana.21765. Ann Neurol. 2009. PMID: 19847901
OBJECTIVE: Mutations in SCARB2 were recently described as causing action myoclonus renal failure syndrome (AMRF). We hypothesized that mutations in SCARB2 might account for unsolved cases of progressive myoclonus epilepsy (PME) without renal imp …
OBJECTIVE: Mutations in SCARB2 were recently described as causing action myoclonus renal failure syndrome …
A critical histidine residue within LIMP-2 mediates pH sensitive binding to its ligand β-glucocerebrosidase.
Zachos C, Blanz J, Saftig P, Schwake M. Zachos C, et al. Traffic. 2012 Aug;13(8):1113-23. doi: 10.1111/j.1600-0854.2012.01372.x. Epub 2012 May 15. Traffic. 2012. PMID: 22537104 Free article.
The lysosomal membrane protein type 2 is a novel identified lysosomal sorting receptor for beta-glucocerebrosidase (GC). Mutations in both genes underlie human pathologies causing action myoclonus-renal failure syndrome (AMRF) and Gaucher diseas …
The lysosomal membrane protein type 2 is a novel identified lysosomal sorting receptor for beta-glucocerebrosidase (GC). Mutations in both g …
Common dopaminergic mechanism for epileptic photosensitivity in progressive myoclonus epilepsies.
Mervaala E, Andermann F, Quesney LF, Krelina M. Mervaala E, et al. Neurology. 1990 Jan;40(1):53-6. doi: 10.1212/wnl.40.1.53. Neurology. 1990. PMID: 2104965
Specific diagnoses included Baltic PME (Unverricht-Lundborg disease), Lafora disease, Kufs' disease, juvenile neuroaxonal dystrophy, and action myoclonus-renal failure syndrome; 2 patients had PME of uncertain etiology. ...
Specific diagnoses included Baltic PME (Unverricht-Lundborg disease), Lafora disease, Kufs' disease, juvenile neuroaxonal dystrophy, and …