The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease

[1]  Houeto Jean-Luc [Parkinson's disease]. , 2022, La Revue du praticien.

[2]  R. Van Tiggelen,et al.  Gaucher disease , 2019, Haematology.

[3]  E. Bongarzone,et al.  Beyond Krabbe's disease: The potential contribution of galactosylceramidase deficiency to neuronal vulnerability in late‐onset synucleinopathies , 2016, Journal of neuroscience research.

[4]  D. Krainc,et al.  Lysosomal trafficking defects link Parkinson's disease with Gaucher's disease , 2016, Movement disorders : official journal of the Movement Disorder Society.

[5]  M. Horowitz,et al.  New Directions in Gaucher Disease , 2016, Human mutation.

[6]  M. Albert,et al.  Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease. , 2016, JAMA neurology.

[7]  C. Mariani,et al.  Survival and dementia in GBA‐associated Parkinson's disease: The mutation matters , 2016, Annals of neurology.

[8]  R. Barker,et al.  Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's , 2016, Annals of neurology.

[9]  R. Gershoni-baruch,et al.  LRRK2, GBA and SMPD1 Founder Mutations and Parkinson's Disease in Ashkenazi Jews , 2016, Dementia and Geriatric Cognitive Disorders.

[10]  D. Krainc,et al.  Activation of β-Glucocerebrosidase Reduces Pathological α-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons , 2016, The Journal of Neuroscience.

[11]  Zayd M. Khaliq,et al.  A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism , 2016, The Journal of Neuroscience.

[12]  Alison Van Rossum,et al.  Enzyme Replacement or Substrate Reduction? A Review of Gaucher Disease Treatment Options , 2016, Hospital pharmacy.

[13]  A. Singleton,et al.  The Evolution of Genetics: Alzheimer’s and Parkinson’s Diseases , 2016, Neuron.

[14]  H. Steller,et al.  The contribution of mutant GBA to the development of Parkinson disease in Drosophila. , 2016, Human molecular genetics.

[15]  G. Kovacs,et al.  Gaucher cells are not associated with α-synuclein neuropathology in infants. , 2016, Clinical neuropathology.

[16]  E. Masliah,et al.  Glucocerebrosidase modulates cognitive and motor activities in murine models of Parkinson’s disease , 2016, Human molecular genetics.

[17]  J. Marugan,et al.  Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease , 2016, Espert Review of Proteomics.

[18]  X. Breakefield,et al.  Delivery of Therapeutic Proteins via Extracellular Vesicles: Review and Potential Treatments for Parkinson’s Disease, Glioma, and Schwannoma , 2016, Cellular and Molecular Neurobiology.

[19]  Ying Sun,et al.  A peptide-linked recombinant glucocerebrosidase for targeted neuronal delivery: Design, production, and assessment. , 2016, Journal of biotechnology.

[20]  Ying Sun,et al.  CNS-accessible Inhibitor of Glucosylceramide Synthase for Substrate Reduction Therapy of Neuronopathic Gaucher Disease , 2016, Molecular therapy : the journal of the American Society of Gene Therapy.

[21]  G. Lopez,et al.  Clinical course and prognosis in patients with Gaucher disease and parkinsonism , 2016, Neurology: Genetics.

[22]  H. Christian,et al.  ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons , 2016, Stem cell reports.

[23]  P. Saftig,et al.  Parkinson's disease: acid‐glucocerebrosidase activity and alpha‐synuclein clearance , 2016, Journal of neurochemistry.

[24]  D. Krainc,et al.  α-Synuclein–induced lysosomal dysfunction occurs through disruptions in protein trafficking in human midbrain synucleinopathy models , 2016, Proceedings of the National Academy of Sciences.

[25]  Yoshiyuki Suzuki,et al.  Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study , 2016, Annals of clinical and translational neurology.

[26]  M. Albert,et al.  GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease , 2016, Movement disorders : official journal of the Movement Disorder Society.

[27]  P. Aebischer,et al.  Αlpha-Synuclein as a Mediator in the Interplay between Aging and Parkinson’s Disease , 2015, Biomolecules.

[28]  R. Gershoni-baruch,et al.  The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews. , 2015, Parkinsonism & related disorders.

[29]  M. Lipinski,et al.  Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells. , 2015, Human molecular genetics.

[30]  Stephanie M. Williams,et al.  Toxic Oligomeric Alpha-Synuclein Variants Present in Human Parkinson’s Disease Brains Are Differentially Generated in Mammalian Cell Models , 2015, Biomolecules.

[31]  A. Schapira Glucocerebrosidase and Parkinson disease: Recent advances , 2015, Molecular and Cellular Neuroscience.

[32]  T. Outeiro,et al.  The Interplay between Alpha-Synuclein Clearance and Spreading , 2015, Biomolecules.

[33]  Jennifer C. Lee,et al.  Cysteine cathepsins are essential in lysosomal degradation of α-synuclein , 2015, Proceedings of the National Academy of Sciences.

[34]  David R. Brown,et al.  Seeking a Mechanism for the Toxicity of Oligomeric α-Synuclein , 2015, Biomolecules.

[35]  K. Marder,et al.  Differential effects of severe vs mild GBA mutations on Parkinson disease , 2015, Neurology.

[36]  Jennifer C. Lee,et al.  Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C. , 2015, Biochemical and biophysical research communications.

[37]  O. Isacson,et al.  Progressive decline of glucocerebrosidase in aging and Parkinson's disease , 2015, Annals of Clinical and Translational Neurology.

[38]  G. Lopez,et al.  The clinical management of Type 2 Gaucher disease. , 2015, Molecular genetics and metabolism.

[39]  A. Schapira,et al.  Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort. , 2015, JAMA neurology.

[40]  S. Sardi,et al.  Gaucher-related synucleinopathies: The examination of sporadic neurodegeneration from a rare (disease) angle , 2015, Progress in Neurobiology.

[41]  D. Eliezer,et al.  Alpha-Synuclein Function and Dysfunction on Cellular Membranes , 2014, Experimental neurobiology.

[42]  Jennifer C. Lee,et al.  Structural Features of Membrane-bound Glucocerebrosidase and α-Synuclein Probed by Neutron Reflectometry and Fluorescence Spectroscopy* , 2014, The Journal of Biological Chemistry.

[43]  Eric E Schadt,et al.  iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's disease. , 2014, Cell reports.

[44]  D. Krainc,et al.  LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance , 2014, Proceedings of the National Academy of Sciences.

[45]  A. Dutra,et al.  Macrophage Models of Gaucher Disease for Evaluating Disease Pathogenesis and Candidate Drugs , 2014, Science Translational Medicine.

[46]  S. Gygi,et al.  iPSC-derived neurons from GBA1-associated Parkinson’s disease patients show autophagic defects and impaired calcium homeostasis , 2014, Nature Communications.

[47]  G. Halliday,et al.  Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease. , 2014, Brain : a journal of neurology.

[48]  T. Foltynie,et al.  Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells , 2014, Brain : a journal of neurology.

[49]  W. Westbroek,et al.  Glucocerebrosidase is shaking up the synucleinopathies. , 2014, Brain : a journal of neurology.

[50]  E. Sidransky,et al.  Lysosomal integral membrane protein-2: a new player in lysosome-related pathology. , 2014, Molecular genetics and metabolism.

[51]  Jennifer C. Lee,et al.  Saposin C protects glucocerebrosidase against α-synuclein inhibition. , 2013, Biochemistry.

[52]  H. Steller,et al.  Unfolded protein response in Gaucher disease: from human to Drosophila , 2013, Orphanet Journal of Rare Diseases.

[53]  M. Nalls,et al.  A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. , 2013, JAMA neurology.

[54]  Anders Björklund,et al.  TFEB-mediated autophagy rescues midbrain dopamine neurons from α-synuclein toxicity , 2013, Proceedings of the National Academy of Sciences.

[55]  A. Ballabio,et al.  TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop , 2013, Nature Cell Biology.

[56]  M. Xilouri,et al.  Loss of β-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells , 2013, PloS one.

[57]  E. Sidransky,et al.  Is Parkinson disease associated with lysosomal integral membrane protein type-2?: challenges in interpreting association data. , 2013, Molecular genetics and metabolism.

[58]  Yoshiyuki Suzuki,et al.  The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice , 2013, Brain and Development.

[59]  D. Elstein,et al.  Phenotype in patients with Gaucher disease and Parkinson disease. , 2013, Blood cells, molecules & diseases.

[60]  Yoshiyuki Suzuki,et al.  Chaperone therapy for neuronopathic Gaucher disease , 2013 .

[61]  D. Elstein,et al.  Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease. , 2013, Blood cells, molecules & diseases.

[62]  R. Sidman,et al.  Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies , 2013, Proceedings of the National Academy of Sciences.

[63]  M. Duchen,et al.  Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage , 2013, Neurochemistry International.

[64]  J. Hardy,et al.  Glucocerebrosidase Deficiency in Substantia Nigra of Parkinson Disease Brains , 2012, Annals of neurology.

[65]  K. Berman,et al.  The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow. , 2012, Brain : a journal of neurology.

[66]  M. Tomishima,et al.  Identification of embryonic stem cell-derived midbrain dopaminergic neurons for engraftment. , 2012, The Journal of clinical investigation.

[67]  Noel Southall,et al.  Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase. , 2012, Journal of medicinal chemistry.

[68]  D. Vassilatis,et al.  Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease , 2012, Movement disorders : official journal of the Movement Disorder Society.

[69]  A. Ballabio,et al.  A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB , 2012, The EMBO journal.

[70]  Jennifer C. Lee,et al.  Biophysics of α-synuclein membrane interactions. , 2012, Biochimica et biophysica acta.

[71]  Noel Southall,et al.  High Throughput Screening for Small Molecule Therapy for Gaucher Disease Using Patient Tissue as the Source of Mutant Glucocerebrosidase , 2012, PloS one.

[72]  Ying Sun,et al.  Ex Vivo and in Vivo Effects of Isofagomine on Acid β-Glucosidase Variants and Substrate Levels in Gaucher Disease* , 2011, The Journal of Biological Chemistry.

[73]  Andrea Ballabio,et al.  TFEB regulates autophagy: An integrated coordination of cellular degradation and recycling processes , 2011, Autophagy.

[74]  P. Fraser,et al.  Effect of Ser-129 Phosphorylation on Interaction of α-Synuclein with Synaptic and Cellular Membranes* , 2011, The Journal of Biological Chemistry.

[75]  A. Futerman,et al.  Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond , 2011, Movement disorders : official journal of the Movement Disorder Society.

[76]  Ying Sun,et al.  Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies , 2011, Cell.

[77]  Jennifer C. Lee,et al.  α-Synuclein Interacts with Glucocerebrosidase Providing a Molecular Link between Parkinson and Gaucher Diseases* , 2011, The Journal of Biological Chemistry.

[78]  Ying Sun,et al.  Acid β‐glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α‐synuclein processing , 2011, Annals of neurology.

[79]  J. Bronstein,et al.  The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry. , 2011, Blood cells, molecules & diseases.

[80]  I. Ferrer,et al.  Chaperone-mediated autophagy markers in Parkinson disease brains. , 2010, Archives of neurology.

[81]  D. Lockhart,et al.  The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β‐glucosidase , 2010, The FEBS journal.

[82]  J. Langston,et al.  Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism. , 2009, Neurotoxicology.

[83]  C. Warren Olanow,et al.  Alterations in lysosomal and proteasomal markers in Parkinson's disease: Relationship to alpha-synuclein inclusions , 2009, Neurobiology of Disease.

[84]  A. Ballabio,et al.  A Gene Network Regulating Lysosomal Biogenesis and Function , 2009, Science.

[85]  Yoshitomo Hamuro,et al.  Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease* , 2009, The Journal of Biological Chemistry.

[86]  M. Hallett,et al.  The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. , 2008, Archives of neurology.

[87]  J. Kordower,et al.  Age-associated increases of α-synuclein in monkeys and humans are associated with nigrostriatal dopamine depletion: Is this the target for Parkinson's disease? , 2007, Neurobiology of Disease.

[88]  D. Elstein,et al.  The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. , 2005, The New England journal of medicine.

[89]  R. Schiffmann,et al.  Enhanced calcium release in the acute neuronopathic form of Gaucher disease , 2005, Neurobiology of Disease.

[90]  R. Nussbaum,et al.  Parkinsonism among Gaucher disease carriers , 2004, Journal of Medical Genetics.

[91]  J. Aharon-Peretz,et al.  Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. , 2004, The New England journal of medicine.

[92]  Peter T. Lansbury,et al.  Impaired Degradation of Mutant α-Synuclein by Chaperone-Mediated Autophagy , 2004, Science.

[93]  D. Krasnewich,et al.  Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. , 2001, Molecular genetics and metabolism.

[94]  M Segal,et al.  Release of calcium from stores alters the morphology of dendritic spines in cultured hippocampal neurons. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[95]  M. L. Schmidt,et al.  α-Synuclein in Lewy bodies , 1997, Nature.

[96]  Robert L. Nussbaum,et al.  Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease , 1997 .

[97]  Nir Giladi,et al.  Occurrence of Parkinson's syndrome in type I Gaucher disease. , 1996, QJM : monthly journal of the Association of Physicians.

[98]  Changhe Shi,et al.  SMPD1 variants in Chinese Han patients with sporadic Parkinson's disease. , 2017, Parkinsonism & related disorders.

[99]  J. Stockman Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease , 2011 .

[100]  Leonidas Stefanis,et al.  Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy. , 2004, Science.

[101]  E. Sidransky,et al.  Glucocerebrosidase mutations in subjects with parkinsonism. , 2004, Molecular genetics and metabolism.

[102]  M G Spillantini,et al.  Alpha-synuclein in Lewy bodies. , 1997, Nature.

[103]  J. Juillard,et al.  [Parkinson disease]. , 1985, Revue de l'infirmiere.