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。Progranulin mutations result in impaired processing of prosaposin and reduced glucocerebrosidase activity
Clarissa Valdez et al.
HUMAN MOLECULAR GENETICS (2020)
The biochemical basis of interactions between Glucocerebrosidase and alpha-synuclein in GBA1 mutation carriers
Marco Toffoli et al.
JOURNAL OF NEUROCHEMISTRY (2020)
The GTEx Consortium atlas of genetic regulatory effects across human tissues
Francois Aguet et al.
SCIENCE (2020)
Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson's Disease and Dementia with Lewy Bodies
Tim E. Moors et al.
MOLECULAR NEUROBIOLOGY (2019)
Mitochondrial clearance and maturation of autophagosomes are compromised in LRRK2 G2019S familial Parkinson's disease patient fibroblasts
Joanna A. Korecka et al.
HUMAN MOLECULAR GENETICS (2019)
Lipid and immune abnormalities causing age-dependent neurodegeneration and Parkinson's disease
Penelope J. Hallett et al.
JOURNAL OF NEUROINFLAMMATION (2019)
Progranulin deficiency leads to reduced glucocerebrosidase activity
Xiaolai Zhou et al.
PLOS ONE (2019)
Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson's disease
Mylene Huebecker et al.
MOLECULAR NEURODEGENERATION (2019)
Autophagy lysosomal pathway dysfunction in Parkinson's disease; evidence from human genetics
Konstantin Senkevich et al.
PARKINSONISM & RELATED DISORDERS (2019)
Novel Results and Concepts Emerging From Lipid Cell Biology Relevant to Degenerative Brain Aging and Disease
Ole Isacson et al.
FRONTIERS IN NEUROLOGY (2019)
The lysosomal function of progranulin, a guardian against neurodegeneration
Daniel H. Paushter et al.
ACTA NEUROPATHOLOGICA (2018)
Is Parkinson's disease a lysosomal disorder?
Andres D. Klein et al.
BRAIN (2018)
Mutation analysis of Parkinson's disease genes in a Russian data set
Anton K. Emelyanov et al.
NEUROBIOLOGY OF AGING (2018)
Glycosphingolipid levels and glucocerebrosidase activity are altered in normal aging of the mouse brain
Penelope J. Hallett et al.
NEUROBIOLOGY OF AGING (2018)
Parkinson's Disease Skin Fibroblasts Display Signature Alterations in Growth, Redox Homeostasis, Mitochondrial Function, and Autophagy
Joji M. Y. Teves et al.
FRONTIERS IN NEUROSCIENCE (2018)
Lipid-dependent deposition of alpha-synuclein and Tau on neuronal Secretogranin II-positive vesicular membranes with age
Oeystein R. Brekk et al.
SCIENTIFIC REPORTS (2018)
Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease
Yuehong Chen et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2018)
Progranulin functions as a cathepsin D chaperone to stimulate axonal outgrowth in vivo
Sander Beel et al.
HUMAN MOLECULAR GENETICS (2017)
Cerebrospinal Fluid β-Glucocerebrosidase Activity Is Reduced in Parkinson's Disease Patients
Lucilla Parnetti et al.
MOVEMENT DISORDERS (2017)
N370S-GBA1 Mutation Causes Lysosomal Cholesterol Accumulation in Parkinson's Disease
Patricia Garcia-Sanz et al.
MOVEMENT DISORDERS (2017)
Selective neuronal vulnerability in Parkinson disease
D. James Surmeier et al.
NATURE REVIEWS NEUROSCIENCE (2017)
The Threshold Theory for Parkinson's Disease
Simone Engelender et al.
TRENDS IN NEUROSCIENCES (2017)
Progranulin: a new avenue towards the understanding and treatment of neurodegenerative disease
Babykumari P. Chitramuthu et al.
BRAIN (2017)
Fibroblast Biomarkers of Sporadic Parkinson's Disease and LRRK2 Kinase Inhibition
G. A. Smith et al.
MOLECULAR NEUROBIOLOGY (2016)
Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's
Ganqiang Liu et al.
ANNALS OF NEUROLOGY (2016)
Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden
Caroline Ran et al.
NEUROBIOLOGY OF AGING (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)
Characterization of the complex formed by β-glucocerebrosidase and the lysosomal integral membrane protein type-2
Friederike Zunke et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
Progranulin Recruits HSP70 to β-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease
Jinlong Jian et al.
EBIOMEDICINE (2016)
Association Between Progranulin and Gaucher Disease
Jinlong Jian et al.
EBIOMEDICINE (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)
SCARB2 variants and glucocerebrosidase activity in Parkinson's disease
Roy N. Alcalay et al.
NPJ PARKINSONS DISEASE (2016)
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations
Roy N. Alcalay et al.
BRAIN (2015)
Glucocerebrosidase gene therapy prevents α-synucleinopathy of midbrain dopamine neurons
Emily M. Rocha et al.
NEUROBIOLOGY OF DISEASE (2015)
Association between rs6812193 polymorphism and sporadic Parkinson's disease susceptibility
Qiang Huo et al.
NEUROLOGICAL SCIENCES (2015)
Mannose 6-phosphate-independent Lysosomal Sorting of LIMP-2
Judith Blanz et al.
TRAFFIC (2015)
Progressive decline of glucocerebrosidase in aging and Parkinson's disease
Emily M. Rocha et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2015)
Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease
Karen E. Murphy et al.
BRAIN (2014)
Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies
Jose Bras et al.
HUMAN MOLECULAR GENETICS (2014)
LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance
Michelle Rothaug et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (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)
iPSC-Derived Dopamine Neurons Reveal Differences between Monozygotic Twins Discordant for Parkinson's Disease
Chris M. Woodard et al.
CELL REPORTS (2014)
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)
The role of SCARB2 as susceptibility factor in Parkinson's disease
Franziska Hopfner et al.
MOVEMENT DISORDERS (2013)
Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage
Katherine R. Smith et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains
Matthew E. Gegg et al.
ANNALS OF NEUROLOGY (2012)
The role of saposin C in Gaucher disease
Rafael J. Tamargo et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Primary Skin Fibroblasts as a Model of Parkinson's Disease
Georg Auburger et al.
MOLECULAR NEUROBIOLOGY (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)
Alpha-synuclein overexpressing transgenic mice show internal organ pathology and autonomic deficits
Penelope J. Hallett et al.
NEUROBIOLOGY OF DISEASE (2012)
Association study of SCARB2 rs6812193 polymorphism with Parkinson's disease in Han Chinese
Shuai Chen et al.
NEUROSCIENCE LETTERS (2012)
Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease
Leelamma M. Panicker et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Pharmacological Rescue of Mitochondrial Deficits in iPSC-Derived Neural Cells from Patients with Familial Parkinson's Disease
Oliver Cooper et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies
Joseph R. Mazzulli et al.
CELL (2011)
A Mutation in SCARB2 is a Modifier in Gaucher Disease
Arash Velayati et al.
HUMAN MUTATION (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)
Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
E. Sidransky et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of β-Glucocerebrosidase
David Reczek et al.
CELL (2007)
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease
L. N. Clark et al.
NEUROLOGY (2007)
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
Matt Baker et al.
NATURE (2006)
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
Marc Cruts et al.
NATURE (2006)
Cell type-specific gene expression of midbrain dopaminergic neurons reveals molecules involved in their vulnerability and protection
CY Chung et al.
HUMAN MOLECULAR GENETICS (2005)
Analysis of relative gene expression data using real-time quantitative PCR and the 2-ΔΔCT method
KJ Livak et al.
METHODS (2001)