Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease

Using mice to model Obsessive Compulsive Disorder: From genes to circuits

(2016) Susanne E. Ahmari   NEUROSCIENCE

Gaucher disease and comorbidities: B-cell malignancy and parkinsonism

(2015) Timothy M. Cox et al.   AMERICAN JOURNAL OF HEMATOLOGY

Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry

(2015) Gregory A. Grabowski et al.   AMERICAN JOURNAL OF HEMATOLOGY

Pathological Interface Between Oligomeric Alpha-Synuclein and Tau in Synucleinopathies

(2015) Urmi Sengupta et al.   BIOLOGICAL PSYCHIATRY

Glucocerebrosidase deficiency and mitochondrial impairment in experimental Parkinson disease

(2015) Carmen Noelker et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11years of therapy: Clinical, histopathologic, and biochemical findings

(2015) Thomas A. Burrow et al.   MOLECULAR GENETICS AND METABOLISM

Copy number variation in Y chromosome multicopy genes is linked to a paternal parent-of-origin effect on CNS autoimmune disease in female offspring

(2015) Laure K Case et al.   GENOME BIOLOGY

Evolution of Prodromal Clinical Markers of Parkinson Disease in aGBAMutation–Positive Cohort

(2015) Michelle Beavan et al.   JAMA Neurology

A novel biomechanical analysis of gait changes in the MPTP mouse model of Parkinson’s disease

(2015) Werner J. Geldenhuys et al.   PeerJ

Ubiquitous Transgene Expression of the Glucosylceramide-Synthesizing Enzyme Accelerates Glucosylceramide Accumulation and Storage Cells in a Gaucher Disease Mouse Model

(2015) Sonya Barnes et al.   PLoS One

Tau Reduction Diminishes Spatial Learning and Memory Deficits after Mild Repetitive Traumatic Brain Injury in Mice

(2015) Jason S. Cheng et al.   PLoS One

Heterozygous mice deficient in Atp1a3 exhibit motor deficits by chronic restraint stress

(2014) Hiroki Sugimoto et al.   BEHAVIOURAL BRAIN RESEARCH

Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation

(2014) Ianai Fishbein et al.   BRAIN

Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice

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

Thematic review series: Recent advances in the treatment of lysosomal storage diseases

(2014) James A. Shayman   JOURNAL OF LIPID RESEARCH

Alpha-synuclein and tau: teammates in neurodegeneration?

(2014) Simon Moussaud et al.   Molecular Neurodegeneration

Normalization and Improvement of CNS Deficits in Mice With Hurler Syndrome After Long-term Peripheral Delivery of BBB-targeted Iduronidase

(2014) Salim S El-Amouri et al.   MOLECULAR THERAPY

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

Defective quality control mechanisms and accumulation of damaged mitochondria link Gaucher and Parkinson diseases

(2013) Laura D Osellame et al.   Autophagy

Transgenic mice expressing human glucocerebrosidase variants: Utility for the study of Gaucher disease

(2013) Angela Sanders et al.   BLOOD CELLS MOLECULES AND DISEASES

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

A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA

(2013) Nicolina Cristina Sorrentino et al.   EMBO Molecular Medicine

Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice

(2013) Ying Sun et al.   HUMAN MOLECULAR GENETICS

Neuroinflammation and α-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction

(2013) Edward I. Ginns et al.   MOLECULAR GENETICS AND METABOLISM

Substrate Compositional Variation with Tissue/Region and Gba1 Mutations in Mouse Models–Implications for Gaucher Disease

(2013) Ying Sun et al.   PLoS One

Engineering a lysosomal enzyme with a derivative of receptor-binding domain of apoE enables delivery across the blood-brain barrier

(2013) D. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

O-GlcNAc transferase (OGT) as a placental biomarker of maternal stress and reprogramming of CNS gene transcription in development

(2013) C. L. Howerton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A clinical and family history study of Parkinson's disease in heterozygousglucocerebrosidasemutation carriers

(2012) Alisdair McNeill et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The link between the GBA gene and parkinsonism

(2012) Ellen Sidransky et al.   LANCET NEUROLOGY

Membrane-bound α-synuclein interacts with glucocerebrosidase and inhibits enzyme activity

(2012) Thai Leong Yap et al.   MOLECULAR GENETICS AND METABOLISM

Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage

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

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers

(2012) M. Anheim et al.   NEUROLOGY

Cognitive performance of GBA mutation carriers with early-onset PD: The CORE-PD study

(2012) R. N. Alcalay et al.   NEUROLOGY

Systemic Delivery of a Glucosylceramide Synthase Inhibitor Reduces CNS Substrates and Increases Lifespan in a Mouse Model of Type 2 Gaucher Disease

(2012) Mario A. Cabrera-Salazar et al.   PLoS One

Acid β-glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α-synuclein processing

(2011) Valerie Cullen et al.   ANNALS OF NEUROLOGY

Molecular Mechanisms of Fear Learning and Memory

(2011) Joshua P. Johansen et al.   CELL

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

(2011) Joseph R. Mazzulli et al.   CELL

Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations

(2011) Jae Hyuk Choi et al.   MOLECULAR GENETICS AND METABOLISM

Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models

(2011) Y.H. Xu et al.   MOLECULAR GENETICS AND METABOLISM

Creatine Transporter (CrT; Slc6a8) Knockout Mice as a Model of Human CrT Deficiency

(2011) Matthew R. Skelton et al.   PLoS One

CNS expression of glucocerebrosidase corrects  -synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy

(2011) S. P. Sardi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: Significant differences between Type I and Type III

(2010) Olle Nilsson et al.   CLINICAL GENETICS

Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits

(2010) Y. Sun et al.   HUMAN MOLECULAR GENETICS

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

(2010) Suzanne Lesage et al.   HUMAN MOLECULAR GENETICS

The risk of Parkinson’s disease in type 1 Gaucher disease

(2010) Gilberto Bultron et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy

(2010) John Marshall et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG)

(2010) P. Chérin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Synergistic Interactions between A , Tau, and  -Synuclein: Acceleration of Neuropathology and Cognitive Decline

(2010) L. K. Clinton et al.   JOURNAL OF NEUROSCIENCE

Neuroscience: Editing out fear

(2010) Gregory J. Quirk et al.   NATURE

Are the Dorsal and Ventral Hippocampus Functionally Distinct Structures?

(2010) Michael S. Fanselow et al.   NEURON

Pharmacologically Distinctive Behaviors other than Burying Marbles during the Marble Burying Test in Mice

(2010) Etsuko Hayashi et al.   PHARMACOLOGY

Comparative Therapeutic Effects of Velaglucerase Alfa and Imiglucerase in a Gaucher Disease Mouse Model

(2010) You-Hai Xu et al.   PLoS One

The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism

(2009) John DePaolo et al.   MOVEMENT DISORDERS

MUTATIONS IN GBA ARE ASSOCIATED WITH FAMILIAL PARKINSON DISEASE SUSCEPTIBILITY AND AGE AT ONSET

(2009) E. Sidransky et al.   NEUROLOGY

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

Reprogramming erythroid cells for lysosomal enzyme production leads to visceral and CNS cross-correction in mice with Hurler syndrome

(2009) D. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sex, Sex Steroids, and Brain Injury

(2009) Paco Herson et al.   SEMINARS IN REPRODUCTIVE MEDICINE

The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase Mutations

(2008) Ozlem Goker-Alpan et al.   ARCHIVES OF NEUROLOGY

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

(2008) Kathleen S. Hruska et al.   HUMAN MUTATION

‘Non-neuronopathic’ Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature

(2008) M. Biegstraaten et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid β-glucosidase residual activity levels

(2008) You-Hai Xu et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Early Neurodegeneration Progresses Independently of Microglial Activation by Heparan Sulfate in the Brain of Mucopolysaccharidosis IIIB Mice

(2008) Jérôme Ausseil et al.   PLoS One

Progression of multiple behavioral deficits with various ages of onset in a murine model of Hurler syndrome

(2007) Dao Pan et al.   BRAIN RESEARCH