Variants in saposin D domain of prosaposin gene linked to Parkinson’s disease

SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease

(2019) Roy N. Alcalay et al.   MOVEMENT DISORDERS

Emerging links between pediatric lysosomal storage diseases and adult parkinsonism

(2019) Daniel Ysselstein et al.   MOVEMENT DISORDERS

Arylsulfatase A, a genetic modifier of Parkinson’s disease, is an α-synuclein chaperone

(2019) Jun Sung Lee et al.   BRAIN

Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy

(2019) Silvia Fenu et al.   NEUROLOGY

Mutations in CHCHD2 cause α-synuclein aggregation

(2019) Aya Ikeda et al.   HUMAN MOLECULAR GENETICS

Sequencing of the GBA coactivator, Saposin C, in Parkinson disease

(2018) Bouchra Ouled Amar Bencheikh et al.   NEUROBIOLOGY OF AGING

Rapid dissemination of alpha-synuclein seeds through neural circuits in an in-vivo prion-like seeding experiment

(2018) Ayami Okuzumi et al.   Acta Neuropathologica Communications

A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci

(2017) Diana Chang et al.   NATURE GENETICS

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

(2017) Elma Aflaki et al.   NEURON

Cochlear Cell Modeling Using Disease-Specific iPSCs Unveils a Degenerative Phenotype and Suggests Treatments for Congenital Progressive Hearing Loss

(2017) Makoto Hosoya et al.   Cell Reports

Escape from Pluripotency via Inhibition of TGF-β/BMP and Activation of Wnt Signaling Accelerates Differentiation and Aging in hPSC Progeny Cells

(2017) Koki Fujimori et al.   Stem Cell Reports

Activation of  -Glucocerebrosidase Reduces Pathological  -Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons

(2016) J. R. Mazzulli et al.   JOURNAL OF NEUROSCIENCE

Alpha-synuclein RT-QuIC in the CSF of patients with alpha-synucleinopathies

(2016) Graham Fairfoul et al.   Annals of Clinical and Translational Neurology

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study

(2015) Manabu Funayama et al.   LANCET NEUROLOGY

MDS clinical diagnostic criteria for Parkinson's disease

(2015) Ronald B. Postuma et al.   MOVEMENT DISORDERS

Controlling the Regional Identity of hPSC-Derived Neurons to Uncover Neuronal Subtype Specificity of Neurological Disease Phenotypes

(2015) Kent Imaizumi et al.   Stem Cell Reports

Statistical power and significance testing in large-scale genetic studies

(2014) Pak C. Sham et al.   NATURE REVIEWS GENETICS

Comparison of Parkinson Risk in Ashkenazi Jewish Patients With Gaucher Disease andGBAHeterozygotes

(2014) Roy N. Alcalay et al.   JAMA Neurology

Glucocerebrosidase mutations influence the natural history of Parkinson’s disease in a community-based incident cohort

(2013) Sophie E. Winder-Rhodes et al.   BRAIN

Zn2+ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation

(2013) Taiji Tsunemi et al.   HUMAN MOLECULAR GENETICS

Real time quaking-induced conversion analysis of cerebrospinal fluid in sporadic Creutzfeldt-Jakob disease

(2012) Lynne I. McGuire et al.   ANNALS OF NEUROLOGY

Autophagy in lysosomal storage disorders

(2012) Andrew P. Lieberman et al.   Autophagy

Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease

(2012) Adriana Sánchez-Danés et al.   EMBO Molecular Medicine

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers

(2012) M. Anheim et al.   NEUROLOGY

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration

(2012) B. Dehay et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue

(2012) Yoichi Imaizumi et al.   Molecular Brain

Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies

(2011) Joseph R. Mazzulli et al.   CELL

Prosaposin sorting is mediated by oligomerization

(2011) Libin Yuan et al.   EXPERIMENTAL CELL RESEARCH

Methods in Mammalian Autophagy Research

(2010) Noboru Mizushima et al.   CELL

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting

(2010) A. M. Vaccaro et al.   HUMAN MOLECULAR GENETICS

The role of UDP-Glc:glycoprotein glucosyltransferase 1 in the maturation of an obligate substrate prosaposin

(2010) Bradley R. Pearse et al.   JOURNAL OF CELL BIOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease

(2009) Wataru Satake et al.   NATURE GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Regional expression of prosaposin in the wild-type and saposin D-deficient mouse brain detected by an anti-mouse prosaposin-specific antibody

(2009) Azusa YONESHIGE et al.   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES