Gaucher disease and comorbidities: B-cell malignancy and parkinsonism

Differential effects of severe vs mild GBA mutations on Parkinson disease

(2015) Z. Gan-Or et al.   NEUROLOGY

Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation

(2014) S. Nair et al.   BLOOD

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

(2014) Alisdair McNeill et al.   BRAIN

Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B-cell malignancy

(2014) Elena V Pavlova et al.   JOURNAL OF PATHOLOGY

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

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

Mitochondria and Quality Control Defects in a Mouse Model of Gaucher Disease—Links to Parkinson’s Disease

(2013) Laura D. Osellame et al.   Cell Metabolism

B cell lymphoma and myeloma in murine Gaucher's disease

(2013) EV Pavlova et al.   JOURNAL OF PATHOLOGY

Loss of β-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells

(2013) Georgia Dermentzaki et al.   PLoS One

Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis

(2013) Alisdair McNeill et al.   PLoS One

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

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

Glucocerebrosidase Mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease

(2012) Marzena Kurzawa-Akanbi et al.   JOURNAL OF NEUROCHEMISTRY

The link between the GBA gene and parkinsonism

(2012) Ellen Sidransky et al.   LANCET NEUROLOGY

Incidence of Monoclonal Gammopathy of Undetermined Significance and Estimation of Duration Before First Clinical Recognition

(2012) Terry M. Therneau et al.   MAYO CLINIC PROCEEDINGS

Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage

(2012) Michael W.J. Cleeter et al.   NEUROCHEMISTRY INTERNATIONAL

GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology

(2012) D. Tsuang et al.   NEUROLOGY

GBA-associated PD: Neurodegeneration, altered membrane metabolism, and lack of energy failure

(2012) K. Brockmann et al.   NEUROLOGY

The Battlefield of Rare Diseases: Where Uncommon Insights Are Common

(2012) W. A. Gahl   Science Translational Medicine

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

(2011) N. Dekker et al.   BLOOD

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

(2011) Joseph R. Mazzulli et al.   CELL

Exploring the link between glucocerebrosidase mutations and parkinsonism

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

Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders

(2010) Ozlem Goker-Alpan et al.   ACTA NEUROPATHOLOGICA

The incidence of Parkinsonism in patients with type 1 Gaucher disease: Data from the ICGG Gaucher Registry

(2010) Barry Rosenbloom et al.   BLOOD CELLS MOLECULES AND DISEASES

Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study

(2010) Marieke Biegstraaten et al.   BRAIN

Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease

(2010) I. Ron et al.   HUMAN MOLECULAR GENETICS

PGC-1 , A Potential Therapeutic Target for Early Intervention in Parkinson's Disease

(2010) B. Zheng et al.   Science Translational Medicine

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

(2009) Tamar H. Taddei et al.   AMERICAN JOURNAL OF HEMATOLOGY

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

(2009) Juliane Neumann et al.   BRAIN

Non-CpG Methylation of the PGC-1α Promoter through DNMT3B Controls Mitochondrial Density

(2009) Romain Barrès et al.   Cell Metabolism

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature

(2008) M. de Fost et al.   ANNALS OF HEMATOLOGY

Principles of bioactive lipid signalling: lessons from sphingolipids

(2008) Yusuf A. Hannun et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

(2008) W. C. Nichols et al.   NEUROLOGY