N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease

Survival and dementia inGBA-associated Parkinson's disease: The mutation matters

(2016) Roberto Cilia et al.   ANNALS OF NEUROLOGY

Brain Disorders Due to Lysosomal Dysfunction

(2016) Alessandro Fraldi et al.   Annual Review of Neuroscience

Nanoparticles restore lysosomal acidification defects: Implications for Parkinson and other lysosomal-related diseases

(2016) Mathieu Bourdenx et al.   Autophagy

Endoplasmic reticulum and lysosomal Ca2+ stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts

(2016) Bethan S. Kilpatrick et al.   CELL CALCIUM

Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease

(2016) Joana Magalhaes et al.   HUMAN MOLECULAR GENETICS

Glucocerebrosidase enzyme activity in GBA mutation Parkinson’s disease

(2016) Roberto A. Ortega et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance

(2016) Judith Blanz et al.   JOURNAL OF NEUROCHEMISTRY

Understanding Dopaminergic Cell Death Pathways in Parkinson Disease

(2016) Patrick P. Michel et al.   NEURON

Inhibition of cholesterol metabolism underlies synergy between mTOR pathway inhibition and chloroquine in bladder cancer cells

(2016) M A King et al.   ONCOGENE

α-Synuclein–induced lysosomal dysfunction occurs through disruptions in protein trafficking in human midbrain synucleinopathy models

(2016) Joseph R. Mazzulli et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons

(2016) Hugo J.R. Fernandes et al.   Stem Cell Reports

Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models

(2016) Alvaro Sanchez-Martinez et al.   Scientific Reports

Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease

(2015) Mario de la Mata et al.   Scientific Reports

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

(2014) Karen E. Murphy et al.   BRAIN

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells

(2014) Alisdair McNeill et al.   BRAIN

Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice

(2014) You-hai Xu et al.   HUMAN MOLECULAR GENETICS

Artesunate Induces Cell Death in Human Cancer Cells via Enhancing Lysosomal Function and Lysosomal Degradation of Ferritin

(2014) Nai-Di Yang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dysregulation of lysosomal morphology by pathogenic LRRK2 is corrected by TPC2 inhibition

(2014) L. N. Hockey et al.   JOURNAL OF CELL SCIENCE

iPSC-derived neurons from GBA1-associated Parkinson’s disease patients show autophagic defects and impaired calcium homeostasis

(2014) David C. Schöndorf et al.   Nature Communications

Cholesterol glucosylation is catalyzed by transglucosylation reaction of β-glucosidase 1

(2013) Hisako Akiyama et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

FKBP10 Depletion Enhances Glucocerebrosidase Proteostasis in Gaucher Disease Fibroblasts

(2013) Derrick Sek Tong Ong et al.   CHEMISTRY & BIOLOGY

Signals from the lysosome: a control centre for cellular clearance and energy metabolism

(2013) Carmine Settembre et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A Global Transcriptome Analysis Reveals Molecular Hallmarks of Neural Stem Cell Death, Survival, and Differentiation in Response to Partial FGF-2 and EGF Deprivation

(2013) Vanesa Nieto-Estévez et al.   PLoS One

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

(2012) Matthew E. Gegg et al.   ANNALS OF NEUROLOGY

Autophagy in lysosomal storage disorders

(2012) Andrew P. Lieberman et al.   Autophagy

Differential configurations involving binding of USF transcription factors and Twist1 regulateAlx3promoter activity in mesenchymal and pancreatic cells

(2012) Patricia García-Sanz et al.   BIOCHEMICAL JOURNAL

The Non-lysosomal β-Glucosidase GBA2 Is a Non-integral Membrane-associated Protein at the Endoplasmic Reticulum (ER) and Golgi

(2012) Heinz G. Körschen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The link between the GBA gene and parkinsonism

(2012) Ellen Sidransky et al.   LANCET NEUROLOGY

A practical guide to evaluating colocalization in biological microscopy

(2011) Kenneth W. Dunn et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

The late endosome/lysosome-anchored p18-mTORC1 pathway controls terminal maturation of lysosomes

(2011) Yusuke Takahashi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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

(2011) Joseph R. Mazzulli et al.   CELL

The Beclin 1 network regulates autophagy and apoptosis

(2011) R Kang et al.   CELL DEATH AND DIFFERENTIATION

Unfolded proteins and endoplasmic reticulum stress in neurodegenerative disorders

(2011) Karen M. Doyle et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Lysosomal positioning coordinates cellular nutrient responses

(2011) Viktor I. Korolchuk et al.   NATURE CELL BIOLOGY

Exploring the link between glucocerebrosidase mutations and parkinsonism

(2011) Wendy Westbroek et al.   TRENDS IN MOLECULAR MEDICINE

Associative Learning and CA3-CA1 Synaptic Plasticity Are Impaired in D1R Null, Drd1a-/- Mice and in Hippocampal siRNA Silenced Drd1a Mice

(2010) O. Ortiz et al.   JOURNAL OF NEUROSCIENCE

Eaten alive: a history of macroautophagy

(2010) Zhifen Yang et al.   NATURE CELL BIOLOGY

Autophagy gone awry in neurodegenerative diseases

(2010) Esther Wong et al.   NATURE NEUROSCIENCE

Trehalose ameliorates dopaminergic and tau pathology in parkin deleted/tau overexpressing mice through autophagy activation

(2010) Jose A. Rodríguez-Navarro et al.   NEUROBIOLOGY OF DISEASE

Leucine-Rich Repeat Kinase 2 Regulates the Progression of Neuropathology Induced by Parkinson's-Disease-Related Mutant α-synuclein

(2009) Xian Lin et al.   NEURON

Cellular cholesterol trafficking and compartmentalization

(2008) Elina Ikonen   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Intracellular cholesterol modifies the ERAD of glucocerebrosidase in Gaucher disease patients☆

(2007) Idit Ron et al.   MOLECULAR GENETICS AND METABOLISM