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

Lysosomal storage diseases as disorders of autophagy

(2014) Carmine Settembre et al.   Autophagy

Molecular Chaperones as Rational Drug Targets for Parkinsons Disease Therapeutics

(2012) S. K. Kalia et al.   CNS & Neurological Disorders-Drug Targets

Arylsulphatase A (ASA) activity in parkinsonism and symptomatic essential tremor

(2010) P. Martinelli et al.   ACTA NEUROLOGICA SCANDINAVICA

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

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

HSP70 and lysosomal storage disorders: novel therapeutic opportunities

(2010) Nikolaj H.T. Petersen et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

New insights into the role of mitochondrial dysfunction and protein aggregation in Parkinson's disease

(2010) Weilin Xie et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Autosomal recessive mutations in the development of Parkinson’s disease

(2010) Grisel Lopez et al.   Biomarkers in Medicine

The N-Terminus of the Intrinsically Disordered Protein α-Synuclein Triggers Membrane Binding and Helix Folding

(2010) Tim Bartels et al.   BIOPHYSICAL JOURNAL

SNARE protein redistribution and synaptic failure in a transgenic mouse model of Parkinson’s disease

(2010) Pablo Garcia-Reitböck et al.   BRAIN

Calcium, cellular aging, and selective neuronal vulnerability in Parkinson's disease

(2010) D. James Surmeier et al.   CELL CALCIUM

Cellular pathogenesis in sphingolipid storage disorders: the quest for new therapeutic approaches

(2010) Tamar Farfel-Becker et al.   Clinical Lipidology

The Role of Glucocerebrosidase Mutations in Parkinson Disease and Lewy Body Disorders

(2010) Arash Velayati et al.   Current Neurology and Neuroscience Reports

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders

(2010) Alessandro Fraldi et al.   EMBO JOURNAL

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β-glucosidase

(2010) Richie Khanna et al.   FEBS Journal

Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses

(2010) E. B. Vitner et al.   HUMAN MOLECULAR GENETICS

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

The Lipid-binding Domain of Wild Type and Mutant α-Synuclein

(2010) Elka R. Georgieva et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases

(2010) Einat B. Vitner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

(2010) Helena Poupětová et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Multi-system disorders of glycosphingolipid and ganglioside metabolism

(2010) You-Hai Xu et al.   JOURNAL OF LIPID RESEARCH

Proteasome inhibition modeling nigral neuron degeneration in Parkinson’s disease

(2010) Wenjie Xie et al.   JOURNAL OF NEUROCHEMISTRY

Pathogenic Lysosomal Depletion in Parkinson's Disease

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

Cell-Produced  -Synuclein Is Secreted in a Calcium-Dependent Manner by Exosomes and Impacts Neuronal Survival

(2010) E. Emmanouilidou et al.   JOURNAL OF NEUROSCIENCE

GM1 ganglioside in Parkinson's disease: Results of a five year open study

(2010) Jay S. Schneider et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Lysosomal function in macromolecular homeostasis and bioenergetics in Parkinson's disease

(2010) Lonnie Schneider et al.   Molecular Neurodegeneration

Assessing disease progression with MRI in atypical parkinsonian disorders

(2010) Martin Köllensperger et al.   MOVEMENT DISORDERS

A historical analysis of the relationship between encephalitis lethargica and postencephalitic parkinsonism: A complex rather than a direct relationship

(2010) Joel A. Vilensky et al.   MOVEMENT DISORDERS

Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: Case report and literature review

(2010) Araceli Alonso-Canovas et al.   MOVEMENT DISORDERS

Functional brain imaging in glucocerebrosidase mutation carriers with and without Parkinsonism

(2010) Satoshi Kono et al.   MOVEMENT DISORDERS

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

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

Hsp70 stabilizes lysosomes and reverts Niemann–Pick disease-associated lysosomal pathology

(2010) Thomas Kirkegaard et al.   NATURE

Missing pieces in the Parkinson's disease puzzle

(2010) Jose A Obeso et al.   NATURE MEDICINE

Significance of MRI in Diagnosis and Differential Diagnosis of Parkinson’s Disease

(2010) Philipp Mahlknecht et al.   Neurodegenerative Diseases

The Role of the Ceramide Acyl Chain Length in Neurodegeneration: Involvement of Ceramide Synthases

(2010) Oshrit Ben-David et al.   NEUROMOLECULAR MEDICINE

The lysosome and neurodegenerative diseases

(2009) L. Zhang et al.   ACTA BIOCHIMICA ET BIOPHYSICA SINICA

Differential Phospholipid Binding of α-Synuclein Variants Implicated in Parkinson’s Disease Revealed by Solution NMR Spectroscopy

(2009) Christina R. Bodner et al.   BIOCHEMISTRY

Mendelian forms of Parkinson's disease

(2009) Thomas Gasser   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The genetics of Parkinson's syndromes: a critical review

(2009) John Hardy et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Multiple Tight Phospholipid-Binding Modes of α-Synuclein Revealed by Solution NMR Spectroscopy

(2009) Christina R. Bodner et al.   JOURNAL OF MOLECULAR BIOLOGY

The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism

(2009) John DePaolo et al.   MOVEMENT DISORDERS

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

Critical role of iron in the pathogenesis of the murine gangliosidoses

(2009) Mylvaganam Jeyakumar et al.   NEUROBIOLOGY OF DISEASE

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece

(2009) Kallirhoe Kalinderi et al.   NEUROSCIENCE LETTERS

Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China

(2009) X.-Y. Mao et al.   NEUROSCIENCE LETTERS

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

Calcium homeostasis, selective vulnerability and Parkinson's disease

(2009) C. Savio Chan et al.   TRENDS IN NEUROSCIENCES

Cathepsin D expression level affects alpha-synuclein processing, aggregation, and toxicity in vivo

(2009) Valerie Cullen et al.   Molecular Brain

The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase Mutations

(2008) Ozlem Goker-Alpan et al.   ARCHIVES OF NEUROLOGY

Enhanced autophagy and mitochondrial aberrations in murine GM1-gangliosidosis

(2008) Ayumi Takamura et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Oxidative and nitrosative stress in Parkinson's disease

(2008) Anthony H.K. Tsang et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Neuronal ceroid lipofuscinoses

(2008) Anu Jalanko et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

The role of autophagy-lysosome pathway in neurodegeneration associated with Parkinson's disease

(2008) T. Pan et al.   BRAIN

Chemical chaperone therapy for GM1-gangliosidosis

(2008) Y. Suzuki   CELLULAR AND MOLECULAR LIFE SCIENCES

Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease

(2008) Jose Bras et al.   FEBS Journal

Proteomic identification of novel proteins associated with Lewy bodies

(2008) Qiangwei Xia   Frontiers in Bioscience-Landmark

Movement disorders and inborn errors of metabolism in adults: A diagnostic approach

(2008) F. Sedel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

‘Non-neuronopathic’ Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature

(2008) M. Biegstraaten et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis

(2008) Sabrina Jabs et al.   JOURNAL OF NEUROCHEMISTRY

Update on the pathogenesis of Parkinson’s disease

(2008) Jörg B. Schulz   JOURNAL OF NEUROLOGY

Gaucher and Parkinson diseases: Unexpectedly related

(2008) E. Rogaeva et al.   NEUROLOGY

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

(2008) Z. Gan-Or et al.   NEUROLOGY

Review: Familial Parkinson's disease – genetics, clinical phenotype and neuropathology in relation to the common sporadic form of the disease

(2008) Carola Schiesling et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Lysosomal enzyme cathepsin D protects against alpha-synuclein aggregation and toxicity

(2008) Liyan Qiao et al.   Molecular Brain

C. elegans Model Identifies Genetic Modifiers of α-Synuclein Inclusion Formation During Aging

(2008) Tjakko J. van Ham et al.   PLoS Genetics

α-Synuclein Selectively Binds to Anionic Phospholipids Embedded in Liquid-Disordered Domains

(2007) Martin Stöckl et al.   JOURNAL OF MOLECULAR BIOLOGY

Neurological evaluation of patients with Gaucher disease diagnosed as type 1

(2007) J L Capablo et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY