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

The galactocerebrosidase enzyme contributes to maintain a functional neurogenic niche during early post-natal CNS development

(2012) Sara Santambrogio et al.   HUMAN MOLECULAR GENETICS

Early Infantile Krabbe Disease: Results of the World-Wide Krabbe Registry

(2012) Patricia K. Duffner et al.   PEDIATRIC NEUROLOGY

Leukemia Inhibitory Factor Protects Axons in Experimental Autoimmune Encephalomyelitis via an Oligodendrocyte-Independent Mechanism

(2012) Melissa M. Gresle et al.   PLoS One

Axonopathy is a compounding factor in the pathogenesis of Krabbe disease

(2011) Ludovico Cantuti Castelvetri et al.   ACTA NEUROPATHOLOGICA

Increased maternal fat consumption during pregnancy alters body composition in neonatal mice

(2011) Stephanie M. Krasnow et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Peripheral Neuropathy in the Twitcher Mouse Involves the Activation of Axonal Caspase 3

(2011) Benjamin Smith et al.   ASN Neuro

Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders

(2011) Kenneth J. Valenzano et al.   ASSAY AND DRUG DEVELOPMENT TECHNOLOGIES

Insights into Krabbe disease from structures of galactocerebrosidase

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

Neural Stem Cell Gene Therapy Ameliorates Pathology and Function in a Mouse Model of Globoid Cell Leukodystrophy

(2011) Margherita Neri et al.   STEM CELLS

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

(2010) I. Visigalli et al.   BLOOD

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

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

(2010) Barbara Tappino et al.   HUMAN MUTATION

Multi-system disorders of glycosphingolipid and ganglioside metabolism

(2010) You-Hai Xu et al.   JOURNAL OF LIPID RESEARCH

Molecular Characterization of Mutations That Cause Globoid Cell Leukodystrophy and Pharmacological Rescue Using Small Molecule Chemical Chaperones

(2010) W. C. Lee et al.   JOURNAL OF NEUROSCIENCE

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

Enhancing Cranial Nerves and Cauda Equina: An Emerging Magnetic Resonance Imaging Pattern in Metachromatic Leukodystrophy and Krabbe Disease

(2010) G. Morana et al.   NEUROPEDIATRICS

Hypothalamic mechanisms in cachexia

(2010) Aaron J. Grossberg et al.   PHYSIOLOGY & BEHAVIOR

Identification of Hematopoietic Stem Cell-Specific miRNAs Enables Gene Therapy of Globoid Cell Leukodystrophy

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

Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy

(2009) Paola Luzi et al.   BRAIN RESEARCH

Specific Determination of  -Galactocerebrosidase Activity via Competitive Inhibition of  -Galactosidase

(2009) S. Martino et al.   CLINICAL CHEMISTRY

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

Newborn Screening for Krabbe Disease: the New York State Model

(2009) Patricia K. Duffner et al.   PEDIATRIC NEUROLOGY

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

BatchPrimer3: A high throughput web application for PCR and sequencing primer design

(2008) Frank M You et al.   BMC BIOINFORMATICS