Altered Gene Expression in Prefrontal Cortex of a Fabry Disease Mouse Model

Default mode network modifications in Fabry disease: A resting-state fMRI study with structural correlations

(2018) Sirio Cocozza et al.   HUMAN BRAIN MAPPING

Signatures of Altered Gene Expression in Dorsal Root Ganglia of a Fabry Disease Mouse Model

(2018) Kai K. Kummer et al.   Frontiers in Molecular Neuroscience

The role of epigenetics in lysosomal storage disorders: Uncharted territory

(2017) Shahzeb Hassan et al.   MOLECULAR GENETICS AND METABOLISM

Human dorsal root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy

(2017) Tim Godel et al.   NEUROLOGY

Affective and cognitive behavior in the alpha-galactosidase A deficient mouse model of Fabry disease

(2017) Lukas Hofmann et al.   PLoS One

Alterations in the inflammatory cytokines and brain-derived neurotrophic factor contribute to depression-like phenotype after spared nerve injury: improvement by ketamine

(2017) Ze-Min Xie et al.   Scientific Reports

Activation of G-protein-gated inwardly rectifying potassium (Kir3/GirK) channels rescues hippocampal functions in a mouse model of early amyloid-β pathology

(2017) Irene Sánchez-Rodríguez et al.   Scientific Reports

Comparative profiling of cortical gene expression in Alzheimer’s disease patients and mouse models demonstrates a link between amyloidosis and neuroinflammation

(2017) Erika Castillo et al.   Scientific Reports

Presymptomatic Alterations in Amino Acid Metabolism and DNA Methylation in the Cerebellum of a Murine Model of Niemann-Pick Type C Disease

(2016) Barry E. Kennedy et al.   AMERICAN JOURNAL OF PATHOLOGY

Brain Endothelial- and Epithelial-Specific Interferon Receptor Chain 1 Drives Virus-Induced Sickness Behavior and Cognitive Impairment

(2016) Thomas Blank et al.   IMMUNITY

Characteristics of Cerebral Microbleeds in Patients with Fabry Disease

(2016) Yu Kono et al.   Journal of Stroke & Cerebrovascular Diseases

Cognitive deficits triggered by early life stress: The role of histone deacetylase 1

(2016) Samantha M. Adler et al.   NEUROBIOLOGY OF DISEASE

The STRING database in 2017: quality-controlled protein–protein association networks, made broadly accessible

(2016) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Characteristics of Cerebral Microbleeds in Patients with Fabry Disease

(2016) Yu Kono et al.   Journal of Stroke & Cerebrovascular Diseases

Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

(2016) David S. Lynch et al.   JAMA Neurology

The Underexploited Role of Non-Coding RNAs in Lysosomal Storage Diseases

(2016) Matheus Trovão de Queiroz et al.   Frontiers in Endocrinology

α-Galactosidase A Knockout Mice

(2015) Dinesh S. Bangari et al.   AMERICAN JOURNAL OF PATHOLOGY

Lack of Neuronal IFN-β-IFNAR Causes Lewy Body- and Parkinson’s Disease-like Dementia

(2015) Patrick Ejlerskov et al.   CELL

Detecting the effects of Fabry disease in the adult human brain with diffusion tensor imaging and fast bound-pool fraction imaging

(2015) Hunter R. Underhill et al.   JOURNAL OF MAGNETIC RESONANCE IMAGING

G-protein-independent coupling of MC4R to Kir7.1 in hypothalamic neurons

(2015) Masoud Ghamari-Langroudi et al.   NATURE

Complex Inflammation mRNA-Related Response in ALS Is Region Dependent

(2015) Sara Berjaoui et al.   NEURAL PLASTICITY

Eight-Year Follow-Up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease

(2015) Irene M. Lelieveld et al.   PLoS One

Cognitive and Psychological Functioning in Fabry Disease

(2014) L. Sigmundsdottir et al.   ARCHIVES OF CLINICAL NEUROPSYCHOLOGY

A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis

(2013) Atsumi Taguchi et al.   BIOCHEMICAL JOURNAL

Anderson-Fabry Disease: A Multiorgan Disease

(2013) Antonino Tuttolomondo et al.   CURRENT PHARMACEUTICAL DESIGN

Neurological Complications of Anderson-Fabry Disease

(2013) Antonino Tuttolomondo et al.   CURRENT PHARMACEUTICAL DESIGN

Colony-stimulating factor 1 receptor (CSF1R) signaling in injured neurons facilitates protection and survival

(2013) Jian Luo et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Cognitive dysfunction and depression in Fabry disease: a systematic review

(2013) Fay E. Bolsover et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The immune marker CD68 correlates with cognitive impairment in normally aged rats

(2013) Mark Farso et al.   NEUROBIOLOGY OF AGING

MRI in acute cerebral ischemia of the young: The Stroke in Young Fabry Patients (sifap1) Study

(2013) F. Fazekas et al.   NEUROLOGY

Diffusion tensor imaging and brain volumetry in Fabry disease patients

(2013) Teemu Paavilainen et al.   NEURORADIOLOGY

Treatment of Niemann–Pick Type C Disease by Histone Deacetylase Inhibitors

(2013) Paul Helquist et al.   Neurotherapeutics

Associations between KCNJ6 (GIRK2) gene polymorphisms and pain-related phenotypes

(2013) Stephen Bruehl et al.   PAIN

Multifocal White Matter Lesions Associated with the D313Y Mutation of the α-Galactosidase A Gene

(2013) Malte Lenders et al.   PLoS One

Molecular Mechanism for Age-Related Memory Loss: The Histone-Binding Protein RbAp48

(2013) E. Pavlopoulos et al.   Science Translational Medicine

New insights into the therapeutic potential of Girk channels

(2013) Rafael Luján et al.   TRENDS IN NEUROSCIENCES

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria

(2012) Thomas P Mechtler et al.   LANCET

Lentivector Transduction Improves Outcomes Over Transplantation of Human HSCs Alone in NOD/SCID/Fabry Mice

(2012) Natalia Pacienza et al.   MOLECULAR THERAPY

Combination therapies for lysosomal storage disease: is the whole greater than the sum of its parts?

(2011) J. A. Hawkins-Salsbury et al.   HUMAN MOLECULAR GENETICS

Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease

(2011) Seiji Saito et al.   JOURNAL OF HUMAN GENETICS

Hippocampal atrophy as a surrogate of neuronal involvement in Fabry disease

(2011) Andreas Fellgiebel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cognitive and Behavioral Consequences of Impaired Immunoregulation in Aging

(2011) Angela W. Corona et al.   Journal of Neuroimmune Pharmacology

Neuron-Specific Effects of Interleukin-1  Are Mediated by a Novel Isoform of the IL-1 Receptor Accessory Protein

(2011) Y. Huang et al.   JOURNAL OF NEUROSCIENCE

Brain MRI findings in patients with Fabry disease

(2011) Ricardo C. Reisin et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Physiology of Microglia

(2011) Helmut Kettenmann et al.   PHYSIOLOGICAL REVIEWS

Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease

(2011) J. Lu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neuropsychiatric symptoms and brain structural alterations in Fabry disease

(2010) I. Schermuly et al.   EUROPEAN JOURNAL OF NEUROLOGY

Cytokines and neuronal channels: A molecular basis for age-related decline of neuronal function?

(2010) Barbara Viviani et al.   EXPERIMENTAL GERONTOLOGY

Fabry disease

(2010) Dominique P Germain   Orphanet Journal of Rare Diseases

Powerful beneficial effects of macrophage colony-stimulating factor on  -amyloid deposition and cognitive impairment in Alzheimer's disease

(2009) V. Boissonneault et al.   BRAIN

The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease

(2009) Richie Khanna et al.   MOLECULAR THERAPY

Cerebral cortex modulation of pain

(2008) Yu-feng Xie et al.   ACTA PHARMACOLOGICA SINICA

Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry

(2007) William R. Wilcox et al.   MOLECULAR GENETICS AND METABOLISM