相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。GBA mutations, glucosylceramide and Parkinson's disease
Ivan Milenkovic et al.
CURRENT OPINION IN NEUROBIOLOGY (2022)
Mutant glucocerebrosidase impairs α-synuclein degradation by blockade of chaperone-mediated autophagy
Sheng-Han Kuo et al.
SCIENCE ADVANCES (2022)
Genetic Analysis of Prosaposin, the Lysosomal Storage Disorder Gene in Parkinson's Disease
Yong-Ping Chen et al.
MOLECULAR NEUROBIOLOGY (2021)
Genetics variants and expression of the SCARB2 gene in the pathogenesis of Parkinson's disease in Russia
T. S. Usenko et al.
NEUROSCIENCE LETTERS (2021)
Identification of GBA mutations among neurodegenerative disease patients from eastern India
Arindam Biswas et al.
NEUROSCIENCE LETTERS (2021)
The Unfolded Protein Response as a Guardian of the Secretory Pathway
Toni Radanovic et al.
CELLS (2021)
Hematological manifestations and complications of Gaucher disease
Shoshana Revel-Vilk et al.
EXPERT REVIEW OF HEMATOLOGY (2021)
TRAP5b and RANKL/OPG Predict Bone Pathology in Patients with Gaucher Disease
Margarita Ivanova et al.
JOURNAL OF CLINICAL MEDICINE (2021)
Rare Saposin A deficiency: Novel variant and psychosine analysis
Laurel Calderwood et al.
MOLECULAR GENETICS AND METABOLISM (2020)
Lysosomes as dynamic regulators of cell and organismal homeostasis
Andrea Ballabio et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2020)
Nanopore sequencing of the glucocerebrosidase (GBA) gene in a New Zealand Parkinson's disease cohort
O. E. E. Graham et al.
PARKINSONISM & RELATED DISORDERS (2020)
Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations A Nonrandomized, Noncontrolled Trial
Stephen Mullin et al.
JAMA NEUROLOGY (2020)
The definition of neuronopathic Gaucher disease
Raphael Schiffmann et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2020)
Lack of evidence for genetic association of saposins A, B, C and D with Parkinson's disease
Yuri Ludwig Sosero et al.
BRAIN (2020)
Gaucher disease-associated alterations in mesenchymal stem cells reduce osteogenesis and favour adipogenesis processes with concomitant increased osteoclastogenesis (vol 130, pg 274, 2020)
A. Crivaro et al.
MOLECULAR GENETICS AND METABOLISM (2020)
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.
Jonas M. den Heijer et al.
MOVEMENT DISORDERS (2020)
The natural history of type 2 Gaucher disease in the 21st century A retrospective study
Tamanna Roshan Lal et al.
NEUROLOGY (2020)
Glycosphingolipids and neuroinflammation in Parkinson's disease
Karim Belarbi et al.
MOLECULAR NEURODEGENERATION (2020)
Novel and reported variants in Parkinson's disease genes confer high disease burden among Indians
Sumeet Kumar et al.
PARKINSONISM & RELATED DISORDERS (2020)
The Endoplasmic Reticulum Stress/Unfolded Protein Response and Their Contributions to Parkinson's Disease Physiopathology
Cristine Alves da Costa et al.
CELLS (2020)
A rapid and low-cost test for screening the most common Parkinson's disease-related GBA variants
Letizia Straniero et al.
PARKINSONISM & RELATED DISORDERS (2020)
Mitochondrial dysfunction and mitophagy defect triggered by heterozygous GBA mutations
Hongyu Li et al.
AUTOPHAGY (2019)
Lysosomal Acid Lipase in Lipid Metabolism and Beyond
Fang Li et al.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2019)
The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru
Carlos Velez-Pardo et al.
PARKINSONISM & RELATED DISORDERS (2019)
How is alpha-synuclein cleared from the cell?
Leonidas Stefanis et al.
JOURNAL OF NEUROCHEMISTRY (2019)
Gaucher Disease in Bone: From Pathophysiology to Practice
Derralynn Hughes et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2019)
Lysosomes as a therapeutic target
Srinivasa Reddy Bonam et al.
NATURE REVIEWS DRUG DISCOVERY (2019)
A modulator of wild-type glucocerebrosidase improves pathogenic phenotypes in dopaminergic neuronal models of Parkinson's disease
Lena F. Burbulla et al.
SCIENCE TRANSLATIONAL MEDICINE (2019)
Endoplasmic reticulum stress disrupts lysosomal homeostasis and induces blockade of autophagic flux in human trophoblasts
Akitoshi Nakashima et al.
SCIENTIFIC REPORTS (2019)
The effect of mutant GBA1 on accumulation and aggregation of α-synuclein
Gali Maor et al.
HUMAN MOLECULAR GENETICS (2019)
The endoplasmic reticulum (ER) chaperone BiP is a master regulator of ER functions: Getting by with a little help from ERdj friends
Kristine Faye R. Pobre et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2019)
Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease risk?
Orly Goldstein et al.
MOLECULAR GENETICS AND METABOLISM (2019)
Early Events in the Endoplasmic Reticulum Unfolded Protein Response
Steffen Preissler et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2019)
Oxidative Insults and Mitochondrial DNA Mutation Promote Enhanced Autophagy and Mitophagy Compromising Cell Viability in Pluripotent Cell Model of Mitochondrial Disease
Dar-Shong Lin et al.
CELLS (2019)
Emptying the stores: lysosomal diseases and therapeutic strategies
Frances M. Platt
NATURE REVIEWS DRUG DISCOVERY (2018)
Association of glucocerebrosidase polymorphisms and mutations with dementia in incident Parkinson's disease
Kristin Aaser Lunde et al.
ALZHEIMERS & DEMENTIA (2018)
Features of GBA-associated Parkinson's disease at presentation in the UK Tracking Parkinson's study
Naveed Malek et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2018)
Mutation analysis of Parkinson's disease genes in a Russian data set
Anton K. Emelyanov et al.
NEUROBIOLOGY OF AGING (2018)
PHARMACOPERONES AS NOVEL THERAPEUTICS FOR DIVERSE PROTEIN CONFORMATIONAL DISEASES
Ya-Xiong Tao et al.
PHYSIOLOGICAL REVIEWS (2018)
The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase
Cathrine K. Fog et al.
EBIOMEDICINE (2018)
HSPA5 Gene encoding Hsp70 chaperone BiP in the endoplasmic reticulum
Jie Wang et al.
GENE (2017)
Alpha-synuclein induces the unfolded protein response in Parkinson's disease SNCA triplication iPSC-derived neurons
Sabrina M. Heman-Ackah et al.
HUMAN MOLECULAR GENETICS (2017)
Osteocyte Alterations Induce Osteoclastogenesis in an In Vitro Model of Gaucher Disease
Constanza Bondar et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2017)
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
Jeanne C. Latourelle et al.
LANCET NEUROLOGY (2017)
The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal
Victoria Berge-Seidl et al.
NEUROSCIENCE LETTERS (2017)
A dose effect of mutations in the GBA gene on Parkinson's disease phenotype
Avner Thaler et al.
PARKINSONISM & RELATED DISORDERS (2017)
Parkinson disease
Werner Poewe et al.
NATURE REVIEWS DISEASE PRIMERS (2017)
Frequency of GBA Variants in Autopsy-proven Multiple System Atrophy
Miriam Sklerov et al.
MOVEMENT DISORDERS CLINICAL PRACTICE (2017)
Involvement of Gaucher Disease Mutations in Parkinson Disease
Lluisa Vilageliu et al.
CURRENT PROTEIN & PEPTIDE SCIENCE (2017)
Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada
Fabin Han et al.
INTERNATIONAL JOURNAL OF NEUROSCIENCE (2016)
GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease
Ignacio F. Mata et al.
MOVEMENT DISORDERS (2016)
Unfolded protein response is activated in Lewy body dementias
J. -H. Baek et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2016)
Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases
Maria J. Ferraz et al.
FEBS LETTERS (2016)
A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism
Elma Aflaki et al.
JOURNAL OF NEUROSCIENCE (2016)
Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden
Caroline Ran et al.
NEUROBIOLOGY OF AGING (2016)
Understanding Dopaminergic Cell Death Pathways in Parkinson Disease
Patrick P. Michel et al.
NEURON (2016)
Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort
David Crosiers et al.
NEUROSCIENCE LETTERS (2016)
GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease
Silvia Jesus et al.
PLOS ONE (2016)
Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses
Thomas Kirkegaard et al.
SCIENCE TRANSLATIONAL MEDICINE (2016)
Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease
Marie Y. Davis et al.
JAMA NEUROLOGY (2016)
ER Stress and Autophagic Per turbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S LEParkinson's iPSC-Derived Dopamine Neurons
Hugo J. R. Fernandes et al.
STEM CELL REPORTS (2016)
Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models
Alvaro Sanchez-Martinez et al.
SCIENTIFIC REPORTS (2016)
Sustained Systemic Glucocerebrosidase Inhibition Induces Brain α-Synuclein Aggregation, Microglia and Complement C1q Activation in Mice
Emily M. Rocha et al.
ANTIOXIDANTS & REDOX SIGNALING (2015)
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations
Roy N. Alcalay et al.
BRAIN (2015)
Candidate genes for Parkinson disease: Lessons from pathogenesis
Priscilla De Rosa et al.
CLINICA CHIMICA ACTA (2015)
Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular models
Erika Malini et al.
FASEB JOURNAL (2015)
Understanding the susceptibility of dopamine neurons to mitochondrial stressors in Parkinson's disease
Dominik Haddad et al.
FEBS LETTERS (2015)
Dopamine Transporter Activity Is Modulated by α-Synuclein
Brittany Butler et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2015)
Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies
Davide Chiasserini et al.
MOLECULAR NEURODEGENERATION (2015)
MDS research criteria for prodromal Parkinson's disease
Daniela Berg et al.
MOVEMENT DISORDERS (2015)
No evidence for substrate accumulation in Parkinson brains with GBA mutations
Matthew E. Gegg et al.
MOVEMENT DISORDERS (2015)
Differential effects of severe vs mild GBA mutations on Parkinson disease
Ziv Gan-Or et al.
NEUROLOGY (2015)
Mannose 6-phosphate-independent Lysosomal Sorting of LIMP-2
Judith Blanz et al.
TRAFFIC (2015)
Impaired intracellular trafficking defines early Parkinson's disease
Benjamin H. M. Hunn et al.
TRENDS IN NEUROSCIENCES (2015)
GBA-Associated Parkinson's Disease: Reduced Survival and More Rapid Progression in a Prospective Longitudinal Study
Kathrin Brockmann et al.
MOVEMENT DISORDERS (2015)
Progressive decline of glucocerebrosidase in aging and Parkinson's disease
Emily M. Rocha et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2015)
Glucocerebrosidase deficits in sporadic Parkinson disease
Karen E. Murphy et al.
AUTOPHAGY (2014)
Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation
Ianai Fishbein et al.
BRAIN (2014)
Neuroinflammation and α-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction
Edward I. Ginns et al.
MOLECULAR GENETICS AND METABOLISM (2014)
Mesenchymal stem cells: immune evasive, not immune privileged
James A. Ankrum et al.
NATURE BIOTECHNOLOGY (2014)
Parkin-mediated ubiquitination of mutant glucocerebrosidase leads to competition with its substrates PARIS and ARTS
Inna Bendikov-Bar et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis
David C. Schoendorf et al.
NATURE COMMUNICATIONS (2014)
Of macrophages and red blood cells; a complex love story
Djuna Z. de Back et al.
FRONTIERS IN PHYSIOLOGY (2014)
Enhanced differentiation of osteoclasts from mononuclear precursors in patients with Gaucher disease
M. Reed et al.
BLOOD CELLS MOLECULES AND DISEASES (2013)
Uncoupling of osteoblast-osteoclast regulation in a chemical murine model of Gaucher disease
Juan M. Mucci et al.
GENE (2013)
ITCH regulates degradation of mutant glucocerebrosidase: implications to Gaucher disease
Gali Maor et al.
HUMAN MOLECULAR GENETICS (2013)
Is Parkinson disease associated with lysosomal integral membrane protein type-2?: Challenges in interpreting association data
Emerson Maniwang et al.
MOLECULAR GENETICS AND METABOLISM (2013)
Unfolded protein response in Gaucher disease: from human to Drosophila
Gali Maor et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Expression of Human Gaucher Disease Gene GBA Generates Neurodevelopmental Defects and ER Stress in Drosophila Eye
Takahiro Suzuki et al.
PLOS ONE (2013)
Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies
S. Pablo Sardi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Identification and Rescue of α-Synuclein Toxicity in Parkinson Patient-Derived Neurons
Chee Yeun Chung et al.
SCIENCE (2013)
An ERcentric view of Parkinson's disease
Gabriela Mercado et al.
TRENDS IN MOLECULAR MEDICINE (2013)
The lysosome: from waste bag to potential therapeutic target
Hanna Appelqvist et al.
JOURNAL OF MOLECULAR CELL BIOLOGY (2013)
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains
Matthew E. Gegg et al.
ANNALS OF NEUROLOGY (2012)
Cleaning Up: ER-Associated Degradation to the Rescue
Jeffrey L. Brodsky
CELL (2012)
Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease
Helen Michelakakis et al.
MOVEMENT DISORDERS (2012)
Living on the edge with too many mouths to feed: Why dopamine neurons die
J. Paul Bolam et al.
MOVEMENT DISORDERS (2012)
Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population
Jung Mi Choi et al.
NEUROSCIENCE LETTERS (2012)
Glucocerebrosidase N370S and L444P mutations as risk factors for Parkinson's disease in Brazilian patients
Beatriz de Carvalho Guimaraes et al.
PARKINSONISM & RELATED DISORDERS (2012)
Parkin Promotes Degradation of the Mitochondrial Pro-Apoptotic ARTS Protein
Stav Kemeny et al.
PLOS ONE (2012)
α-Synuclein in Parkinson's Disease
Leonidas Stefanis
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2012)
The endoplasmic reticulum stress response in aging and age-related diseases
Marishka K. Brown et al.
FRONTIERS IN PHYSIOLOGY (2012)
Acid β-Glucosidase Mutants Linked to Gaucher Disease, Parkinson Disease, and Lewy Body Dementia Alter α-Synuclein Processing
Valerie Cullen et al.
ANNALS OF NEUROLOGY (2011)
Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease
Ari Zimran et al.
BLOOD (2011)
Improving the accuracy of MRI spleen and liver volume measurements: A phase III Gaucher disease clinical trial setting as a model
Luc Bracoud et al.
BLOOD CELLS MOLECULES AND DISEASES (2011)
PARIS (ZNF746) Repression of PGC-1α Contributes to Neurodegeneration in Parkinson's Disease
Joo-Ho Shin et al.
CELL (2011)
Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies
Joseph R. Mazzulli et al.
CELL (2011)
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease
Suzanne Lesage et al.
HUMAN MOLECULAR GENETICS (2011)
Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form - No positive effects after 2-years of miglustat therapy
Anna Tylki-Szymanska et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa
S. Lesage et al.
NEUROLOGY (2011)
CNS expression of glucocerebrosidase corrects α-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy
S. Pablo Sardi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
The Unfolded Protein Response: From Stress Pathway to Homeostatic Regulation
Peter Walter et al.
SCIENCE (2011)
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
N. Badiola et al.
CELL DEATH & DISEASE (2011)
Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease
Chuong B. Do et al.
PLOS GENETICS (2011)
Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants
Olle Nilsson et al.
CLINICAL GENETICS (2010)
The unfolded protein response is required to maintain the integrity of the endoplasmic reticulum, prevent oxidative stress and preserve differentiation in beta-cells
R. J. Kaufman et al.
DIABETES OBESITY & METABOLISM (2010)
A sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysates
Michael B. Tropak et al.
GLYCOBIOLOGY (2010)
Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease
Idit Ron et al.
HUMAN MOLECULAR GENETICS (2010)
Golgi-to-phagosome transport of acid sphingomyelinase and prosaposin is mediated by sortilin
Anna Waehe et al.
JOURNAL OF CELL SCIENCE (2010)
The myeloid cells of the central nervous system parenchyma
Richard M. Ransohoff et al.
NATURE (2010)
Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor
Lorraine N. Clark et al.
PARKINSONISM & RELATED DISORDERS (2010)
Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl
Jie Lu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
α-Synuclein Promotes SNARE-Complex Assembly in Vivo and in Vitro
Jacqueline Burre et al.
SCIENCE (2010)
Mutations for Gaucher Disease Confer High Susceptibility to Parkinson Disease
Jun Mitsui et al.
ARCHIVES OF NEUROLOGY (2009)
No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease
Tamar Farfel-Becker et al.
HUMAN MOLECULAR GENETICS (2009)
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal
Jose Bras et al.
NEUROBIOLOGY OF AGING (2009)
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece
Kallirhoe Kalinderi et al.
NEUROSCIENCE LETTERS (2009)
Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
E. Sidransky et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C
Matthew Feldhammer et al.
PLOS ONE (2009)
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis
Samuel E. Berkovic et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome
Andrea Balreira et al.
HUMAN MOLECULAR GENETICS (2008)
Gaucher disease:: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
Kathleen S. Hruska et al.
HUMAN MUTATION (2008)
Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset
Z. Gan-Or et al.
NEUROLOGY (2008)
The recognition and retrotranslocation of misfolded proteins from the endoplasmic reticulum
Kunio Nakatsukasa et al.
TRAFFIC (2008)
Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis
Ting-Wei Mu et al.
PLOS BIOLOGY (2008)
Non-neuronopathic Gaucher disease due to saposin C deficiency
Anna Tylki-Szymanska et al.
CLINICAL GENETICS (2007)
LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of β-Glucocerebrosidase
David Reczek et al.
CELL (2007)
Murine models of acute neuronopathic Gaucher disease
Ida Berglin Enquist et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese
Yih-Ru Wu et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2007)
Signal integration in the endoplasmic reticulum unfolded protein response
David Ron et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2007)
Activation of the unfolded protein response in Parkinson's disease
J. J. M. Hoozemans et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2007)
Relationships between the sequence of α-synuclein and its membrane affinity, fibrillization propensity, and yeast toxicity
Michael J. Volles et al.
JOURNAL OF MOLECULAR BIOLOGY (2007)
Unfolded protein response: its role in physiology and physiopathology
Fabienne Foufelle et al.
M S-MEDECINE SCIENCES (2007)
The unfolded protein response
Martin Schroeder
MOLECULAR BIOTECHNOLOGY (2006)
Lewy bodies
CW Shults
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
In vivo imaging of microglial activation with [11C](R)-PK11195 PET in idiopathic Parkinson's disease
A Gerhard et al.
NEUROBIOLOGY OF DISEASE (2006)
Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease
M Schmitz et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2005)
ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity
I Ron et al.
HUMAN MOLECULAR GENETICS (2005)
Use of fluorescent substrates for characterization of Gaucher disease mutations
I Ron et al.
BLOOD CELLS MOLECULES AND DISEASES (2005)
Divergent phenotypes in Gaucher disease implicate the role of modifiers
O Goker-Alpan et al.
JOURNAL OF MEDICAL GENETICS (2005)
Molecular pathways to neurodegeneration
E Bossy-Wetzel et al.
NATURE MEDICINE (2004)
Parkinsonism among Gaucher disease carriers
O Goker-Alpan et al.
JOURNAL OF MEDICAL GENETICS (2004)
Transgenic mouse expressing human mutant α-galactosidase A in an endogenous enzyme deficient background:: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease
S Ishii et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2004)
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
J Aharon-Peretz et al.
NEW ENGLAND JOURNAL OF MEDICINE (2004)
Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse
J Matsuda et al.
HUMAN MOLECULAR GENETICS (2004)
Functional analysis of 13 GBA mutant Alleles identified in Gaucher disease patients:: Pathogenic changes and modifier polymorphisms
M Montfort et al.
HUMAN MUTATION (2004)
Fibrillization of α-synuclein and tau in familial Parkinson's disease caused by the A53T α-synuclein mutation
PT Kotzbauer et al.
EXPERIMENTAL NEUROLOGY (2004)
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes
R Steinfeld et al.
HUMAN MOLECULAR GENETICS (2004)
'Unfolding' pathways in neurodegenerative disease
MS Forman et al.
TRENDS IN NEUROSCIENCES (2003)
Gaucher's disease with Parkinson's disease - Clinical and pathological aspects
B Bembi et al.
NEUROLOGY (2003)
Biosynthesis and degradation of mammalian glycosphingolipids
K Sandhoff et al.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2003)
Chemical chaperones increase the cellular activity of N370S β-glucosidase:: A therapeutic strategy for Gaucher disease
AR Sawkar et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
α-Synuclein is phosphorylated in synucleinopathy lesions
H Fujiwara et al.
NATURE CELL BIOLOGY (2002)
A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse
J Matsuda et al.
HUMAN MOLECULAR GENETICS (2001)
Oxidative damage linked to neurodegeneration by selective α-synuclein nitration in synucleinopathy lesions
BI Giasson et al.
SCIENCE (2000)
Neuropathology in mice expressing human α-synuclein
H van der Putten et al.
JOURNAL OF NEUROSCIENCE (2000)
Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation
E Orvisky et al.
PEDIATRIC RESEARCH (2000)
Type 2 Gaucher disease: the collodion baby phenotype revisited
DL Stone et al.
ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION (2000)