Characterization of the complex formed by β-glucocerebrosidase and the lysosomal integral membrane protein type-2

α-Synuclein–induced lysosomal dysfunction occurs through disruptions in protein trafficking in human midbrain synucleinopathy models

(2016) Joseph R. Mazzulli et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Extracellular Juxtamembrane Segment of ADAM17 Interacts with Membranes and Is Essential for Its Shedding Activity

(2015) Stefan Düsterhöft et al.   BIOCHEMISTRY

Mannose 6-phosphate-independent Lysosomal Sorting of LIMP-2

(2015) Judith Blanz et al.   TRAFFIC

Glucocerebrosidase is shaking up the synucleinopathies

(2014) Marina Siebert et al.   BRAIN

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies

(2014) Jose Bras et al.   HUMAN MOLECULAR GENETICS

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

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

LIMP-2 expression is critical for  -glucocerebrosidase activity and  -synuclein clearance

(2014) M. Rothaug et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2014) Yuguang Zhao et al.   Nature Communications

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

(2013) Dante Neculai et al.   NATURE

Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies

(2013) S. Pablo Sardi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies

(2013) Michael A. Nalls et al.   JAMA Neurology

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

(2012) Matthew E. Gegg et al.   ANNALS OF NEUROLOGY

Discovery, Structure–Activity Relationship, and Biological Evaluation of Noninhibitory Small Molecule Chaperones of Glucocerebrosidase

(2012) Samarjit Patnaik et al.   JOURNAL OF MEDICINAL CHEMISTRY

Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies

(2011) Joseph R. Mazzulli et al.   CELL

Pharmacological chaperone therapy for Gaucher disease: a patent review

(2011) Juan M Benito et al.   EXPERT OPINION ON THERAPEUTIC PATENTS

CNS expression of glucocerebrosidase corrects  -synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy

(2011) S. P. Sardi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exploring the link between glucocerebrosidase mutations and parkinsonism

(2011) Wendy Westbroek et al.   TRENDS IN MOLECULAR MEDICINE

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

Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

(2008) Samuel F. Berkovic et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

(2008) Kathleen S. Hruska et al.   HUMAN MUTATION