Endothelial cell dysfunction in globoid cell leukodystrophy

Brain angioarchitecture and intussusceptive microvascular growth in a murine model of Krabbe disease

(2015) Arianna Giacomini et al.   ANGIOGENESIS

Brain endothelial dysfunction in cerebral adrenoleukodystrophy

(2015) Patricia L. Musolino et al.   BRAIN

History, genetic, and recent advances on Krabbe disease

(2015) Adriana Carol Eleonora Graziano et al.   GENE

Glucocerebrosidase 1 deficientDanio reriomirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death

(2015) Marcus Keatinge et al.   HUMAN MOLECULAR GENETICS

Intussusceptive angiogenesis: expansion and remodeling of microvascular networks

(2014) Steven J. Mentzer et al.   ANGIOGENESIS

Molecular cloning and knockdown of galactocerebrosidase in zebrafish: New insights into the pathogenesis of Krabbe's disease

(2014) Daniela Zizioli et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signaling

(2014) Ilaria Zancan et al.   HUMAN MOLECULAR GENETICS

Globotriaosylceramide Induces Lysosomal Degradation of Endothelial K Ca 3.1 in Fabry Disease

(2013) Shinkyu Choi et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Inhibition of angiogenesis by β-galactosylceramidase deficiency in globoid cell leukodystrophy

(2013) Mirella Belleri et al.   BRAIN

Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease

(2013) Wei-Lien Chuang et al.   CLINICA CHIMICA ACTA

Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease

(2013) Gregory B. Potter et al.   HUMAN MOLECULAR GENETICS

Psychosine, the cytotoxic sphingolipid that accumulates in globoid cell leukodystrophy, alters membrane architecture

(2013) Jacqueline A. Hawkins-Salsbury et al.   JOURNAL OF LIPID RESEARCH

Matrigel plug assay: evaluation of the angiogenic response by reverse transcription-quantitative PCR

(2012) Daniela Coltrini et al.   ANGIOGENESIS

Detection of the Neurotoxin Psychosine in Samples of Peripheral Blood: Application in Diagnostics and Follow-up of Krabbe Disease

(2012) Hongling Zhu et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Bevacizumab Diminishes Experimental Autoimmune Encephalomyelitis by Inhibiting Spinal Cord Angiogenesis and Reducing Peripheral T-Cell Responses

(2012) Carolyn J. MacMillan et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Globotriaosylsphingosine Accumulation and Not Alpha-Galactosidase-A Deficiency Causes Endothelial Dysfunction in Fabry Disease

(2012) Mehdi Namdar et al.   PLoS One

Alzheimer’s-Related Peptide Amyloid-β Plays a Conserved Role in Angiogenesis

(2012) D. Joshua Cameron et al.   PLoS One

Modeling Neurodegeneration in Zebrafish

(2011) Yanwei Xi et al.   Current Neurology and Neuroscience Reports

Factors that affect postnatal bone growth retardation in the twitcher murine model of Krabbe disease

(2010) Miguel Agustin Contreras et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The galactocerebrosidase enzyme contributes to the maintenance of a functional hematopoietic stem cell niche

(2010) I. Visigalli et al.   BLOOD

Transgenic zebrafish models of neurodegenerative diseases

(2010) Jonathan J. Sager et al.   Brain Structure & Function

Widespread enzymatic correction of CNS tissues by a single intracerebral injection of therapeutic lentiviral vector in leukodystrophy mouse models

(2010) Annalisa Lattanzi et al.   HUMAN MOLECULAR GENETICS

Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries

(2010) Helena Hůlková et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Persistence of psychosine in brain lipid rafts is a limiting factor in the therapeutic recovery of a mouse model for Krabbe disease

(2010) A.B. White et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Genetic zebrafish models of neurodegenerative diseases

(2010) Oliver Bandmann et al.   NEUROBIOLOGY OF DISEASE

Selective Extraction and Effective Separation of Galactosylsphingosine (Psychosine) and Glucosylsphingosine from Other Glycosphingolipids in Pathological Tissue Samples

(2010) Yu-Teh Li et al.   NEUROCHEMICAL RESEARCH

Altered Chondrocyte Differentiation and Extracellular Matrix Homeostasis in a Zebrafish Model for Mucolipidosis II

(2009) Heather Flanagan-Steet et al.   AMERICAN JOURNAL OF PATHOLOGY

Pathogenesis of leukodystrophy for Krabbe disease: Molecular mechanism and clinical treatment

(2009) Norio Sakai   BRAIN & DEVELOPMENT

Engraftment and Reconstitution of Hematopoiesis Is Dependent on VEGFR2-Mediated Regeneration of Sinusoidal Endothelial Cells

(2009) Andrea T. Hooper et al.   Cell Stem Cell

Psychosine Accumulates in Membrane Microdomains in the Brain of Krabbe Patients, Disrupting the Raft Architecture

(2009) A. B. White et al.   JOURNAL OF NEUROSCIENCE

Combined hematopoietic and lentiviral gene-transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease

(2009) F. Galbiati et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Significant correction of pathology in brains of twitcher mice following injection of genetically modified mouse neural progenitor cells

(2009) Michelina Strazza et al.   MOLECULAR GENETICS AND METABOLISM

The neurovascular link in health and disease: an update

(2009) Inmaculada Segura et al.   TRENDS IN MOLECULAR MEDICINE

Psychosine-induced alterations in peroxisomes of twitcher mouse liver

(2008) Miguel Agustin Contreras et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Lysosomal disorders: From storage to cellular damage

(2008) Andrea Ballabio et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

VASCULAR DYSFUNCTION IN THE α-GALACTOSIDASE A-KNOCKOUT MOUSE IS AN ENDOTHELIAL CELL-, PLASMA MEMBRANE-BASED DEFECT

(2008) James L Park et al.   CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY

Neurovascular signalling defects in neurodegeneration

(2008) Serena Zacchigna et al.   NATURE REVIEWS NEUROSCIENCE

The Yin and Yang of lactosylceramide metabolism: Implications in cell function

(2007) Subroto Chatterjee et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS