Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular models

The LIMP-2/SCARB2 Binding Motif on Acid β-Glucosidase

(2014) Benjamin Liou et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lysosome sorting of β-glucocerebrosidase by LIMP-2 is targeted by the mannose 6-phosphate receptor

(2014) Yuguang Zhao et al.   Nature Communications

Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis

(2013) Paulo Gaspar et al.   JOURNAL OF LIPID RESEARCH

A novelSCARB2mutation causing late-onset progressive myoclonus epilepsy

(2013) Yuichi Higashiyama et al.   MOVEMENT DISORDERS

Structure of LIMP-2 provides functional insights with implications for SR-BI and CD36

(2013) Dante Neculai et al.   NATURE

A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient’s skin

(2013) Natascha Bergamin et al.   Orphanet Journal of Rare Diseases

A newSCARB2mutation in a patient with progressive myoclonus ataxia without renal failure

(2012) Rosa Guerrero-López et al.   MOVEMENT DISORDERS

Mutation of SCARB2 in a Patient With Progressive Myoclonus Epilepsy and Demyelinating Peripheral Neuropathy

(2011) Leanne M. Dibbens et al.   ARCHIVES OF NEUROLOGY

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused bySCARB2mutations

(2011) Guido Rubboli et al.   EPILEPSIA

Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings

(2011) João Chaves et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

SCARB2mutations in progressive myoclonus epilepsy (PME) without renal failure

(2009) L.M. Dibbens et al.   ANNALS OF NEUROLOGY

Multipotent Progenitor Cells Are Present in Human Peripheral Blood

(2009) Daniela Cesselli et al.   CIRCULATION RESEARCH

Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand β-glucocerebrosidase

(2009) Judith Blanz et al.   HUMAN MOLECULAR GENETICS

Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the β-glucosidase enzyme

(2009) Andrea Dardis et al.   MOLECULAR GENETICS AND METABOLISM

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome

(2008) A. Balreira et al.   HUMAN MOLECULAR GENETICS