Lysosomal functions and dysfunctions: Molecular and cellular mechanisms underlying Gaucher disease and its association with Parkinson disease

Identification of GBA mutations among Neurodegenerative disease Patients from eastern India

(2021) Arindam Biswas et al.   NEUROSCIENCE LETTERS

Hematological manifestations and complications of Gaucher disease

(2021) Shoshana Revel-Vilk et al.   Expert Review of Hematology

TRAP5b and RANKL/OPG Predict Bone Pathology in Patients with Gaucher Disease

(2021) Margarita Ivanova et al.   Journal of Clinical Medicine

GBA mutations, glucosylceramide and Parkinson's disease

(2021) Ivan Milenkovic et al.   CURRENT OPINION IN NEUROBIOLOGY

The Unfolded Protein Response as a Guardian of the Secretory Pathway

(2021) Toni Radanović et al.   Cells

Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations

(2020) Stephen Mullin et al.   JAMA Neurology

The definition of neuronopathic Gaucher disease

(2020) Raphael Schiffmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Corrigendum to “Gaucher disease-associated alterations in mesenchymal stem cells reduce osteogenesis and favour adipogenesis processes with concomitant increased osteoclastogenesis” [Molecular Genetics Metabolism 130 (2020) 274-282]

(2020) A. Crivaro et al.   MOLECULAR GENETICS AND METABOLISM

A Large‐Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.

(2020) Jonas M. Heijer et al.   MOVEMENT DISORDERS

The Natural History of Type 2 Gaucher Disease in the 21st Century: A Retrospective Study

(2020) Tamanna Roshan Lal et al.   NEUROLOGY

Lack of evidence for genetic association of saposins A, B, C and D with Parkinson’s disease

(2020) Yuri Ludwig Sosero et al.   BRAIN

Glycosphingolipids and neuroinflammation in Parkinson’s disease

(2020) Karim Belarbi et al.   Molecular Neurodegeneration

Novel and reported variants in Parkinson's disease genes confer high disease burden among Indians

(2020) Sumeet Kumar et al.   PARKINSONISM & RELATED DISORDERS

Genetic Analysis of Prosaposin, the Lysosomal Storage Disorder Gene in Parkinson’s Disease

(2020) Yong-Ping Chen et al.   MOLECULAR NEUROBIOLOGY

Genetics variants and expression of the SCARB2 gene in the pathogenesis of Parkinson's disease in Russia

(2020) T.S. Usenko et al.   NEUROSCIENCE LETTERS

The Endoplasmic Reticulum Stress/Unfolded Protein Response and Their Contributions to Parkinson’s Disease Physiopathology

(2020) Cristine Alves da Costa et al.   Cells

The effect of mutant GBA1 on accumulation and aggregation of α-synuclein

(2019) Gali Maor et al.   HUMAN MOLECULAR GENETICS

Oxidative Insults and Mitochondrial DNA Mutation Promote Enhanced Autophagy and Mitophagy Compromising Cell Viability in Pluripotent Cell Model of Mitochondrial Disease

(2019) Dar-Shong Lin et al.   Cells

The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru

(2019) Carlos Velez-Pardo et al.   PARKINSONISM & RELATED DISORDERS

Lysosomal Acid Lipase in Lipid Metabolism and Beyond

(2019) Fang Li et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

How is alpha‐synuclein cleared from the cell?

(2019) Leonidas Stefanis et al.   JOURNAL OF NEUROCHEMISTRY

Gaucher Disease in Bone: From Pathophysiology to Practice

(2019) Derralynn Hughes et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Rare Saposin A deficiency: Novel variant and psychosine analysis

(2019) Laurel Calderwood et al.   MOLECULAR GENETICS AND METABOLISM

Lysosomes as a therapeutic target

(2019) Srinivasa Reddy Bonam et al.   NATURE REVIEWS DRUG DISCOVERY

Lysosomes as dynamic regulators of cell and organismal homeostasis

(2019) Andrea Ballabio et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A modulator of wild-type glucocerebrosidase improves pathogenic phenotypes in dopaminergic neuronal models of Parkinson’s disease

(2019) Lena F. Burbulla et al.   Science Translational Medicine

Endoplasmic reticulum stress disrupts lysosomal homeostasis and induces blockade of autophagic flux in human trophoblasts

(2019) Akitoshi Nakashima et al.   Scientific Reports

Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease risk?

(2019) Orly Goldstein et al.   MOLECULAR GENETICS AND METABOLISM

Nanopore sequencing of the glucocerebrosidase (GBA) gene in a New Zealand Parkinson's disease cohort

(2019) O.E.E. Graham et al.   PARKINSONISM & RELATED DISORDERS

Association of glucocerebrosidase polymorphisms and mutations with dementia in incident Parkinson's disease

(2018) Kristin Aaser Lunde et al.   Alzheimers & Dementia

Features ofGBA-associated Parkinson’s disease at presentation in the UKTracking Parkinson’sstudy

(2018) Naveed Malek et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mutation Analysis of Parkinson's disease genes in a Russian dataset

(2018) Anton K. Emelyanov et al.   NEUROBIOLOGY OF AGING

Pharmacoperones as Novel Therapeutics for Diverse Protein Conformational Diseases

(2018) Ya-Xiong Tao et al.   PHYSIOLOGICAL REVIEWS

Mitochondrial Dysfunction and Mitophagy Defect Triggered by Heterozygous GBA Mutations

(2018) Hongyu Li et al.   Autophagy

The endoplasmic reticulum (ER) chaperone BiP is a master regulator of ER functions: Getting by with a little help from ERdj friends

(2018) Kristine Faye R. Pobre et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Early Events in the Endoplasmic Reticulum Unfolded Protein Response

(2018) Steffen Preissler et al.   Cold Spring Harbor Perspectives in Biology

The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase

(2018) Cathrine K. Fog et al.   EBioMedicine

HSPA5 Gene encoding Hsp70 chaperone BiP in the endoplasmic reticulum

(2017) Jie Wang et al.   GENE

Alpha-synuclein induces the unfolded protein response in Parkinson’s disease SNCA triplication iPSC-derived neurons

(2017) Sabrina M Heman-Ackah et al.   HUMAN MOLECULAR GENETICS

Osteocyte Alterations Induce Osteoclastogenesis in an In Vitro Model of Gaucher Disease

(2017) Constanza Bondar et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Large-scale identification of clinical and genetic predictors of motor progression in patients with newly diagnosed Parkinson's disease: a longitudinal cohort study and validation

(2017) Jeanne C Latourelle et al.   LANCET NEUROLOGY

Emptying the stores: lysosomal diseases and therapeutic strategies

(2017) Frances M. Platt   NATURE REVIEWS DRUG DISCOVERY

The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal

(2017) Victoria Berge-Seidl et al.   NEUROSCIENCE LETTERS

A “dose” effect of mutations in the GBA gene on Parkinson's disease phenotype

(2017) Avner Thaler et al.   PARKINSONISM & RELATED DISORDERS

Parkinson disease

(2017) Werner Poewe et al.   Nature Reviews Disease Primers

Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases

(2016) Maria J. Ferraz et al.   FEBS LETTERS

A New Glucocerebrosidase Chaperone Reduces  -Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism

(2016) E. Aflaki et al.   JOURNAL OF NEUROSCIENCE

Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden

(2016) Caroline Ran et al.   NEUROBIOLOGY OF AGING

Understanding Dopaminergic Cell Death Pathways in Parkinson Disease

(2016) Patrick P. Michel et al.   NEURON

Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson’s disease and increase susceptibility to dementia in a Flanders-Belgian cohort

(2016) David Crosiers et al.   NEUROSCIENCE LETTERS

GBA Variants Influence Motor and Non-Motor Features of Parkinson’s Disease

(2016) Silvia Jesús et al.   PLoS One

Heat shock protein–based therapy as a potential candidate for treating the sphingolipidoses

(2016) Thomas Kirkegaard et al.   Science Translational Medicine

Association ofGBAMutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease

(2016) Marie Y. Davis et al.   JAMA Neurology

ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons

(2016) Hugo J.R. Fernandes et al.   Stem Cell Reports

Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models

(2016) Alvaro Sanchez-Martinez et al.   Scientific Reports

Sustained Systemic Glucocerebrosidase Inhibition Induces Brain α-Synuclein Aggregation, Microglia and Complement C1q Activation in Mice

(2015) Emily M. Rocha et al.   ANTIOXIDANTS & REDOX SIGNALING

Glucocerebrosidase activity in Parkinson’s disease with and withoutGBAmutations

(2015) Roy N. Alcalay et al.   BRAIN

Candidate genes for Parkinson disease: Lessons from pathogenesis

(2015) Priscilla De Rosa et al.   CLINICA CHIMICA ACTA

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

(2015) Erika Malini et al.   FASEB JOURNAL

Understanding the susceptibility of dopamine neurons to mitochondrial stressors in Parkinson's disease

(2015) Dominik Haddad et al.   FEBS LETTERS

Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada

(2015) Fabin Han et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

Dopamine Transporter Activity Is Modulated by α-Synuclein

(2015) Brittany Butler et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2015) Davide Chiasserini et al.   Molecular Neurodegeneration

GBAVariants are associated with a distinct pattern of cognitive deficits in Parkinson's disease

(2015) Ignacio F. Mata et al.   MOVEMENT DISORDERS

MDS research criteria for prodromal Parkinson's disease

(2015) Daniela Berg et al.   MOVEMENT DISORDERS

No evidence for substrate accumulation in Parkinson brains withGBAmutations

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

Differential effects of severe vs mild GBA mutations on Parkinson disease

(2015) Z. Gan-Or et al.   NEUROLOGY

Unfolded protein response is activated in Lewy body dementias

(2015) Jean-Ha Baek et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

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

(2015) Judith Blanz et al.   TRAFFIC

Impaired intracellular trafficking defines early Parkinson's disease

(2015) Benjamin H.M. Hunn et al.   TRENDS IN NEUROSCIENCES

Glucocerebrosidase deficits in sporadic Parkinson disease

(2014) Karen E Murphy et al.   Autophagy

Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation

(2014) Ianai Fishbein et al.   BRAIN

GBA-associated Parkinson's disease: Reduced survival and more rapid progression in a prospective longitudinal study

(2014) Kathrin Brockmann et al.   MOVEMENT DISORDERS

Mesenchymal stem cells: immune evasive, not immune privileged

(2014) James A Ankrum et al.   NATURE BIOTECHNOLOGY

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

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

Of macrophages and red blood cells; a complex love story

(2014) Djuna Z. de Back et al.   Frontiers in Physiology

Enhanced differentiation of osteoclasts from mononuclear precursors in patients with Gaucher disease

(2013) M. Reed et al.   BLOOD CELLS MOLECULES AND DISEASES

Uncoupling of osteoblast–osteoclast regulation in a chemical murine model of Gaucher disease

(2013) Juan M. Mucci et al.   GENE

Is Parkinson disease associated with lysosomal integral membrane protein type-2?: Challenges in interpreting association data

(2013) Emerson Maniwang et al.   MOLECULAR GENETICS AND METABOLISM

Neuroinflammation and α-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction

(2013) Edward I. Ginns et al.   MOLECULAR GENETICS AND METABOLISM

Unfolded protein response in Gaucher disease: from human to Drosophila

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

Expression of Human Gaucher Disease Gene GBA Generates Neurodevelopmental Defects and ER Stress in Drosophila Eye

(2013) Takahiro Suzuki et al.   PLoS One

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

Identification and Rescue of  -Synuclein Toxicity in Parkinson Patient-Derived Neurons

(2013) C. Y. Chung et al.   SCIENCE

An ERcentric view of Parkinson's disease

(2013) Gabriela Mercado et al.   TRENDS IN MOLECULAR MEDICINE

The lysosome: from waste bag to potential therapeutic target

(2013) Hanna Appelqvist et al.   Journal of Molecular Cell Biology

 -Synuclein in Parkinson's Disease

(2013) L. Stefanis   Cold Spring Harbor Perspectives in Medicine

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

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

Cleaning Up: ER-Associated Degradation to the Rescue

(2012) Jeffrey L. Brodsky   CELL

ITCH regulates degradation of mutant glucocerebrosidase: implications to Gaucher disease

(2012) G. Maor et al.   HUMAN MOLECULAR GENETICS

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

(2012) Helen Michelakakis et al.   MOVEMENT DISORDERS

Living on the edge with too many mouths to feed: Why dopamine neurons die

(2012) J. Paul Bolam et al.   MOVEMENT DISORDERS

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

(2012) Raquel Duran et al.   MOVEMENT DISORDERS

Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population

(2012) Jung Mi Choi et al.   NEUROSCIENCE LETTERS

Parkin Promotes Degradation of the Mitochondrial Pro-Apoptotic ARTS Protein

(2012) Stav Kemeny et al.   PLoS One

The endoplasmic reticulum stress response in aging and age-related diseases

(2012) Marishka K. Brown et al.   Frontiers in Physiology

Acid β-glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α-synuclein processing

(2011) Valerie Cullen et al.   ANNALS OF NEUROLOGY

Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease

(2011) A. Zimran et al.   BLOOD

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

Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form — No positive effects after 2-years of miglustat therapy

(2011) Anna Tylki-Szymańska et al.   MOLECULAR GENETICS AND METABOLISM

Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa

(2011) S. Lesage et al.   NEUROLOGY

Glucocerebrosidase N370S and L444P mutations as risk factors for Parkinson’s disease in Brazilian patients

(2011) Beatriz de Carvalho Guimarães et al.   PARKINSONISM & RELATED DISORDERS

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

The Unfolded Protein Response: From Stress Pathway to Homeostatic Regulation

(2011) P. Walter et al.   SCIENCE

Induction of ER stress in response to oxygen-glucose deprivation of cortical cultures involves the activation of the PERK and IRE-1 pathways and of caspase-12

(2011) N Badiola et al.   Cell Death & Disease

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

Improving the accuracy of MRI spleen and liver volume measurements: A phase III Gaucher disease clinical trial setting as a model

(2010) Luc Bracoud et al.   BLOOD CELLS MOLECULES AND DISEASES

Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants

(2010) Olle Nilsson et al.   CLINICAL GENETICS

The unfolded protein response is required to maintain the integrity of the endoplasmic reticulum, prevent oxidative stress and preserve differentiation in β-cells

(2010) R. J. Kaufman et al.   DIABETES OBESITY & METABOLISM

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

Golgi-to-phagosome transport of acid sphingomyelinase and prosaposin is mediated by sortilin

(2010) A. Wahe et al.   JOURNAL OF CELL SCIENCE

The myeloid cells of the central nervous system parenchyma

(2010) Richard M. Ransohoff et al.   NATURE

Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl

(2010) J. Lu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

 -Synuclein Promotes SNARE-Complex Assembly in Vivo and in Vitro

(2010) J. Burre et al.   SCIENCE

Mutations for Gaucher Disease Confer High Susceptibility to Parkinson Disease

(2009) Jun Mitsui et al.   ARCHIVES OF NEUROLOGY

A sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysates

(2009) M. B Tropak et al.   GLYCOBIOLOGY

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

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

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece

(2009) Kallirhoe Kalinderi et al.   NEUROSCIENCE LETTERS

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor

(2009) Lorraine N. Clark et al.   PARKINSONISM & RELATED DISORDERS

Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C

(2009) Matthew Feldhammer et al.   PLoS One

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

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

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

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

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

Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset

(2008) Z. Gan-Or et al.   NEUROLOGY

The Recognition and Retrotranslocation of Misfolded Proteins from the Endoplasmic Reticulum

(2008) Kunio Nakatsukasa et al.   TRAFFIC

Partial Restoration of Mutant Enzyme Homeostasis in Three Distinct Lysosomal Storage Disease Cell Lines by Altering Calcium Homeostasis

(2008) Ting-Wei Mu et al.   PLOS BIOLOGY

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

(2007) Jose Bras et al.   NEUROBIOLOGY OF AGING