Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance

GBA deficiency promotes SNCA/α-synuclein accumulation through autophagic inhibition by inactivated PPP2A

(2015) Ting-Ting Du et al.   Autophagy

Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease

(2015) Ziv Gan-Or et al.   Autophagy

Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C

(2015) James M. Gruschus et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells

(2015) Ola Awad et al.   HUMAN MOLECULAR GENETICS

The endosomal pathway in Parkinson's disease

(2015) Rebecca M. Perrett et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Glucocerebrosidase and Parkinson disease: Recent advances

(2015) Anthony H.V. Schapira   MOLECULAR AND CELLULAR NEUROSCIENCE

Selective loss of glucocerebrosidase activity in sporadic Parkinson’s disease and dementia with Lewy bodies

(2015) Davide Chiasserini et al.   Molecular Neurodegeneration

No evidence for substrate accumulation in Parkinson brains withGBAmutations

(2015) Matthew E. Gegg et al.   MOVEMENT DISORDERS

Ambroxol-induced rescue of defective glucocerebrosidase is associated with increased LIMP-2 and saposin C levels in GBA1 mutant Parkinson's disease cells

(2015) Giulia Ambrosi et al.   NEUROBIOLOGY OF DISEASE

Parkin loss leads to PARIS-dependent declines in mitochondrial mass and respiration

(2015) Daniel A. Stevens et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gaucher-related synucleinopathies: The examination of sporadic neurodegeneration from a rare (disease) angle

(2015) S. Pablo Sardi et al.   PROGRESS IN NEUROBIOLOGY

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

(2015) Judith Blanz et al.   TRAFFIC

LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease

(2015) Michelle Rothaug et al.   Acta Neuropathologica Communications

Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice

(2015) André R. A. Marques et al.   PLoS One

Insights into links between familial and sporadic Parkinson's disease: Physical relationship between UCH-L1 variants and chaperone-mediated autophagy

(2014) Tomohiro Kabuta et al.   Autophagy

Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson’s disease

(2014) Karen E. Murphy et al.   BRAIN

Glucocerebrosidase is shaking up the synucleinopathies

(2014) Marina Siebert et al.   BRAIN

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells

(2014) Alisdair McNeill et al.   BRAIN

α-Synuclein Ubiquitination and Novel Therapeutic Targets for Parkinson’s Disease

(2014) Ruth Rott et al.   CNS & Neurological Disorders-Drug Targets

Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes

(2014) Stephanie M.Y. Kong et al.   HUMAN MOLECULAR GENETICS

Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction

(2014) Jin-Sung Park et al.   HUMAN MOLECULAR GENETICS

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

Targeted Suppression of Chaperone-Mediated Autophagy by miR-320a Promotes α-Synuclein Aggregation

(2014) Guobin Li et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Structural Features of Membrane-bound Glucocerebrosidase and α-Synuclein Probed by Neutron Reflectometry and Fluorescence Spectroscopy

(2014) Thai Leong Yap et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The significance of GBA for Parkinson’s disease

(2014) Kathrin Brockmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

ATP13A2/PARK9 Regulates Secretion of Exosomes and  -Synuclein

(2014) T. Tsunemi et al.   JOURNAL OF NEUROSCIENCE

Extracellular α-synuclein—a novel and crucial factor in Lewy body diseases

(2014) He-Jin Lee et al.   Nature Reviews Neurology

Increased plasma oligomeric alpha-synuclein in patients with lysosomal storage diseases

(2014) S.N. Pchelina et al.   NEUROSCIENCE LETTERS

A GCase Chaperone Improves Motor Function in a Mouse Model of Synucleinopathy

(2014) Franziska Richter et al.   Neurotherapeutics

Parkin-mediated ubiquitination of mutant glucocerebrosidase leads to competition with its substrates PARIS and ARTS

(2014) Inna Bendikov-Bar et al.   Orphanet Journal of Rare Diseases

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease

(2014) Pramod K. Mistry et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Macrophage Models of Gaucher Disease for Evaluating Disease Pathogenesis and Candidate Drugs

(2014) E. Aflaki et al.   Science Translational Medicine

iPSC-derived neurons from GBA1-associated Parkinson’s disease patients show autophagic defects and impaired calcium homeostasis

(2014) David C. Schöndorf et al.   Nature Communications

Glucocerebrosidase depletion enhances cell-to-cell transmission of α-synuclein

(2014) Eun-Jin Bae et al.   Nature Communications

Comparison of Parkinson Risk in Ashkenazi Jewish Patients With Gaucher Disease andGBAHeterozygotes

(2014) Roy N. Alcalay et al.   JAMA Neurology

Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

(2013) Monia B. Hammer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cholesterol glucosylation is catalyzed by transglucosylation reaction of β-glucosidase 1

(2013) Hisako Akiyama et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Saposin C Protects Glucocerebrosidase against α-Synuclein Inhibition

(2013) Thai Leong Yap et al.   BIOCHEMISTRY

Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses

(2013) Maria J. Ferraz et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Boosting chaperone-mediated autophagy in vivo mitigates α-synuclein-induced neurodegeneration

(2013) Maria Xilouri et al.   BRAIN

Zn2+ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation

(2013) Taiji Tsunemi et al.   HUMAN MOLECULAR GENETICS

Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration

(2013) T. Farfel-Becker et al.   HUMAN MOLECULAR GENETICS

TFEB regulates lysosomal proteostasis

(2013) Wensi Song et al.   HUMAN MOLECULAR GENETICS

The role ofSCARB2as susceptibility factor in Parkinson's disease

(2013) Franziska Hopfner et al.   MOVEMENT DISORDERS

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

(2013) Dante Neculai et al.   NATURE

Interplay of LRRK2 with chaperone-mediated autophagy

(2013) Samantha J Orenstein et al.   NATURE NEUROSCIENCE

Signals from the lysosome: a control centre for cellular clearance and energy metabolism

(2013) Carmine Settembre et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

(2013) Z. Gan-Or et al.   NEUROLOGY

Unfolded protein response in Gaucher disease: from human to Drosophila

(2013) Gali Maor et al.   Orphanet Journal of Rare Diseases

Genetics of Parkinson's disease – state of the art, 2013

(2013) Vincenzo Bonifati   PARKINSONISM & RELATED DISORDERS

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

TFEB-mediated autophagy rescues midbrain dopamine neurons from  -synuclein toxicity

(2013) M. Decressac et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Influence of microRNA deregulation on chaperone-mediated autophagy and α-synuclein pathology in Parkinson's disease

(2013) L Alvarez-Erviti et al.   Cell Death & Disease

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

Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

(2012) Inna Bendikov-Bar et al.   BLOOD CELLS MOLECULES AND DISEASES

Unfolded protein response

(2012) Stewart Siyan Cao et al.   CURRENT BIOLOGY

The nonlysosomal β-glucosidase GBA2 promotes endoplasmic reticulum stress and impairs tumorigenicity of human melanoma cells

(2012) Sonia-Caroline Sorli et al.   FASEB JOURNAL

Gaucher disease paradigm: From ERAD to comorbidity

(2012) Inna Bendikov-Bar et al.   HUMAN MUTATION

Reconstitution of Glucosylceramide Flip-Flop across Endoplasmic Reticulum

(2012) Madhavan Chalat et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Non-lysosomal β-Glucosidase GBA2 Is a Non-integral Membrane-associated Protein at the Endoplasmic Reticulum (ER) and Golgi

(2012) Heinz G. Körschen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

(2012) Frances M. Platt et al.   JOURNAL OF CELL BIOLOGY

Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes

(2012) Derek G. Burke et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts

(2012) Massimo Aureli et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Glucocerebrosidase Mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease

(2012) Marzena Kurzawa-Akanbi et al.   JOURNAL OF NEUROCHEMISTRY

Development and Characterization of a New Parkinson's Disease Model Resulting from Impaired Autophagy

(2012) I. Ahmed et al.   JOURNAL OF NEUROSCIENCE

Disrupted Autophagy Leads to Dopaminergic Axon and Dendrite Degeneration and Promotes Presynaptic Accumulation of  -Synuclein and LRRK2 in the Brain

(2012) L. G. Friedman et al.   JOURNAL OF NEUROSCIENCE

Beta-glucosidase 2 knockout mice with increased glucosylceramide show impaired liver regeneration

(2012) Maria A. Gonzalez-Carmona et al.   LIVER INTERNATIONAL

The role of saposin C in Gaucher disease

(2012) Rafael J. Tamargo et al.   MOLECULAR GENETICS AND METABOLISM

Membrane-bound α-synuclein interacts with glucocerebrosidase and inhibits enzyme activity

(2012) Thai Leong Yap et al.   MOLECULAR GENETICS AND METABOLISM

Lysosome-dependent pathways as a unifying theme in Parkinson's disease

(2012) George K. Tofaris   MOVEMENT DISORDERS

Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease

(2012) Helen Michelakakis et al.   MOVEMENT DISORDERS

Regional deficiencies in chaperone-mediated autophagy underlie α-synuclein aggregation and neurodegeneration

(2012) Kristen A. Malkus et al.   NEUROBIOLOGY OF DISEASE

Regulation of Presynaptic Neurotransmission by Macroautophagy

(2012) Daniela Hernandez et al.   NEURON

Genetic analysis of the LAMP-2 gene promoter in patients with sporadic Parkinson's disease

(2012) Shuchao Pang et al.   NEUROSCIENCE LETTERS

Parkin Promotes Degradation of the Mitochondrial Pro-Apoptotic ARTS Protein

(2012) Stav Kemeny et al.   PLoS One

A world of sphingolipids and glycolipids in the brain —Novel functions of simple lipids modified with glucose—

(2012) Yoshio HIRABAYASHI   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES

A Critical Histidine Residue Within LIMP-2 Mediates pH Sensitive Binding to Its Ligand β-Glucocerebrosidase

(2012) Christina Zachos et al.   TRAFFIC

Novel sterol glucosyltransferase in the animal tissue and cultured cells: Evidence that glucosylceramide as glucose donor

(2011) Hisako Akiyama et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Altered expression of autophagic genes in the peripheral leukocytes of patients with sporadic Parkinson's disease

(2011) Guanghua Wu et al.   BRAIN RESEARCH

PARIS (ZNF746) Repression of PGC-1α Contributes to Neurodegeneration in Parkinson's Disease

(2011) Joo-Ho Shin et al.   CELL

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

PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity

(2011) David Ramonet et al.   HUMAN MOLECULAR GENETICS

Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways

(2011) Michela Palmieri et al.   HUMAN MOLECULAR GENETICS

A mutation in SCARB2 is a modifier in gaucher disease

(2011) Arash Velayati et al.   HUMAN MUTATION

α-Synuclein Interacts with Glucocerebrosidase Providing a Molecular Link between Parkinson and Gaucher Diseases

(2011) Thai Leong Yap et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models

(2011) Y.H. Xu et al.   MOLECULAR GENETICS AND METABOLISM

Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond

(2011) Tamar Shachar et al.   MOVEMENT DISORDERS

Parkinson's disease and α-synuclein expression

(2011) Michael J. Devine et al.   MOVEMENT DISORDERS

Fighting neurodegeneration with rapamycin: mechanistic insights

(2011) Jordi Bové et al.   NATURE REVIEWS NEUROSCIENCE

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

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

Exploring the link between glucocerebrosidase mutations and parkinsonism

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

Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease

(2011) Chuong B. Do et al.   PLoS Genetics

Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome

(2010) A. S. Al-Din et al.   ACTA NEUROLOGICA SCANDINAVICA

Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders

(2010) Ozlem Goker-Alpan et al.   ACTA NEUROPATHOLOGICA

Chaperone-Mediated Autophagy Markers in Parkinson Disease Brains

(2010) Lydia Alvarez-Erviti et al.   ARCHIVES OF NEUROLOGY

Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant

(2010) Inna Bendikov-Bar et al.   BLOOD CELLS MOLECULES AND DISEASES

Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease

(2010) I. Ron et al.   HUMAN MOLECULAR GENETICS

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

(2010) Suzanne Lesage et al.   HUMAN MOLECULAR GENETICS

Lysosomal Degradation of α-Synucleinin Vivo

(2010) Sally K. Mak et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The risk of Parkinson’s disease in type 1 Gaucher disease

(2010) Gilberto Bultron et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG)

(2010) P. Chérin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Pathogenic Lysosomal Depletion in Parkinson's Disease

(2010) B. Dehay et al.   JOURNAL OF NEUROSCIENCE

Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization

(2010) Rachel Saunders-Pullman et al.   MOVEMENT DISORDERS

Glycosphingolipids-Nature, Function, and Pharmacological Modulation

(2009) Tom Wennekes et al.   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

SCARB2mutations in progressive myoclonus epilepsy (PME) without renal failure

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

Mutations for Gaucher Disease Confer High Susceptibility to Parkinson Disease

(2009) Jun Mitsui et al.   ARCHIVES OF NEUROLOGY

Differential phenotype in Parkinson's disease patients with severe versus mild GBA mutations

(2009) Z. Gan-Or et al.   BRAIN

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

(2009) Juliane Neumann et al.   BRAIN

Analysis of interactive effect of stretch reflex and shortening reaction on rigidity in Parkinson’s disease

(2009) Ruiping Xia et al.   CLINICAL NEUROPHYSIOLOGY

Activity of plasma membrane β-galactosidase and β-glucosidase

(2009) Massimo Aureli et al.   FEBS LETTERS

No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease

(2009) T. Farfel-Becker et al.   HUMAN MOLECULAR GENETICS

Parkinson's disease

(2009) Andrew J Lees et al.   LANCET

α-Synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity

(2009) Aaron D Gitler et al.   NATURE GENETICS

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

(2009) Paul Saftig et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Alterations in lysosomal and proteasomal markers in Parkinson's disease: Relationship to alpha-synuclein inclusions

(2009) Yaping Chu et al.   NEUROBIOLOGY OF DISEASE

Variation on a theme: Identifying sequence variation in disease genes and defining pathogenicity

(2009) L. N. Clark   NEUROLOGY

Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: A biological link between Gaucher disease and parkinsonism

(2009) Amy B. Manning-Boğ et al.   NEUROTOXICOLOGY

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

Chaperone-mediated autophagy: selectivity pays off

(2009) Ana Maria Cuervo   TRENDS IN ENDOCRINOLOGY AND METABOLISM

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

Lysosomal disorders: From storage to cellular damage

(2008) Andrea Ballabio et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Ambroxol: A CNS Drug?

(2008) Thomas Weiser   CNS Neuroscience & Therapeutics

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

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

Wild Type α-Synuclein Is Degraded by Chaperone-mediated Autophagy and Macroautophagy in Neuronal Cells

(2008) Tereza Vogiatzi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Sydney multicenter study of Parkinson's disease: The inevitability of dementia at 20 years

(2008) Mariese A. Hely et al.   MOVEMENT DISORDERS

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

(2008) W. C. Nichols et al.   NEUROLOGY

Intracellular cholesterol modifies the ERAD of glucocerebrosidase in Gaucher disease patients☆

(2007) Idit Ron et al.   MOLECULAR GENETICS AND METABOLISM