Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies

The hidden potential of lysosomal ion channels: A new era of oncogenes

(2018) Andra M Sterea et al.   CELL CALCIUM

GBA-Associated Parkinson’s Disease and Other Synucleinopathies

(2018) Ziv Gan-Or et al.   Current Neurology and Neuroscience Reports

Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder

(2018) Jiao Li et al.   MOVEMENT DISORDERS

DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability

(2018) Carlos HM Rodrigues et al.   NUCLEIC ACIDS RESEARCH

LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder

(2018) Bouchra Ouled Amar Bencheikh et al.   PARKINSONISM & RELATED DISORDERS

The lysosomal potassium channel TMEM175 adopts a novel tetrameric architecture

(2017) Changkeun Lee et al.   NATURE

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

(2017) Diana Chang et al.   NATURE GENETICS

The dementia-associated APOE ε4 allele is not associated with rapid eye movement sleep behavior disorder

(2017) Ziv Gan-Or et al.   NEUROBIOLOGY OF AGING

TMEM175 deficiency impairs lysosomal and mitochondrial function and increases α-synuclein aggregation

(2017) Sarah Jinn et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Idiopathic REM sleep behavior disorder and neurodegenerative risk: To tell or not to tell to the patient? How to minimize the risk?

(2017) Dario Arnaldi et al.   SLEEP MEDICINE REVIEWS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease

(2016) Jay P. Ross et al.   NEUROBIOLOGY OF AGING

The Autophagy–Lysosomal Pathway in Neurodegeneration: A TFEB Perspective

(2016) Heidi Martini-Stoica et al.   TRENDS IN NEUROSCIENCES

Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease

(2015) Ziv Gan-Or et al.   Autophagy

Glucocerebrosidase activity in Parkinson’s disease with and withoutGBAmutations

(2015) Roy N. Alcalay et al.   BRAIN

TMEM175 Is an Organelle K + Channel Regulating Lysosomal Function

(2015) Chunlei Cang et al.   CELL

Parkinson risk in idiopathic REM sleep behavior disorder: Preparing for neuroprotective trials

(2015) R. B. Postuma et al.   NEUROLOGY

Differential effects of severe vs mild GBA mutations on Parkinson disease

(2015) Z. Gan-Or et al.   NEUROLOGY

Conducting Meta-Analyses inRwith themetaforPackage

(2015) Wolfgang Viechtbauer   Journal of Statistical Software

Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson’s disease

(2014) Karen E. Murphy et al.   BRAIN

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

(2014) Mike A Nalls et al.   NATURE GENETICS

Glucocerebrosidase depletion enhances cell-to-cell transmission of α-synuclein

(2014) Eun-Jin Bae et al.   Nature Communications

CHARMM36 all-atom additive protein force field: Validation based on comparison to NMR data

(2013) Jing Huang et al.   JOURNAL OF COMPUTATIONAL CHEMISTRY

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database

(2012) Christina M. Lill et al.   PLoS Genetics

Cyclin-G-associated kinase modifies  -synuclein expression levels and toxicity in Parkinson's disease: results from the GenePD Study

(2011) A. Dumitriu et al.   HUMAN MOLECULAR GENETICS

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders — Current status and perspectives

(2011) Arnold J. Reuser et al.   MOLECULAR GENETICS AND METABOLISM

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

(2010) A. McKenna et al.   GENOME RESEARCH

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

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

CHARMM-GUI Membrane Builder for Mixed Bilayers and Its Application to Yeast Membranes

(2009) Sunhwan Jo et al.   BIOPHYSICAL JOURNAL

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

An improved high-throughput dried blood spot screening method for Gaucher disease

(2008) Petra Olivova et al.   CLINICA CHIMICA ACTA