Krabbe disease: One Hundred years from the bedside to the bench to the bedside

History, genetic, and recent advances on Krabbe disease

(2015) Adriana Carol Eleonora Graziano et al.   GENE

Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy

(2015) A. Ricca et al.   HUMAN MOLECULAR GENETICS

Mechanism-Based Combination Treatment Dramatically Increases Therapeutic Efficacy in Murine Globoid Cell Leukodystrophy

(2015) J. A. Hawkins-Salsbury et al.   JOURNAL OF NEUROSCIENCE

Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features

(2015) Mohammad A. Rafi et al.   MOLECULAR GENETICS AND METABOLISM

Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10-GALC in Twitcher Mice

(2015) Mohammad A Rafi et al.   MOLECULAR THERAPY

Pharmacological chaperones increase residual β-galactocerebrosidase activity in fibroblasts from Krabbe patients

(2014) Anna Sara Berardi et al.   MOLECULAR GENETICS AND METABOLISM

Experimental Therapies in the Murine Model of Globoid Cell Leukodystrophy

(2014) Yedda Li et al.   PEDIATRIC NEUROLOGY

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

Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations?

(2013) David A. Wenger et al.   MOLECULAR GENETICS AND METABOLISM

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

(2013) A. Biffi et al.   SCIENCE

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review

(2012) Rabab Debs et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Bone marrow transplantation increases efficacy of central nervous system-directed enzyme replacement therapy in the murine model of globoid cell leukodystrophy

(2012) Elizabeth Y. Qin et al.   MOLECULAR GENETICS AND METABOLISM

Extended Normal Life After AAVrh10-mediated Gene Therapy in the Mouse Model of Krabbe Disease

(2012) Mohammad A Rafi et al.   MOLECULAR THERAPY

Bone Marrow Transplantation Augments the Effect of Brain- and Spinal Cord-Directed Adeno-Associated Virus 2/5 Gene Therapy by Altering Inflammation in the Murine Model of Globoid-Cell Leukodystrophy

(2011) A. S. Reddy et al.   JOURNAL OF NEUROSCIENCE

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

Juvenile Krabbe's Leukodystrophy Precipitated by Influenza A Infection

(2010) Oonagh E McGuinness et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Mesenchymal Lineage Stem Cells Have Pronounced Anti-Inflammatory Effects in the Twitcher Mouse Model of Krabbe's Disease

(2010) Cynthia B. Ripoll et al.   STEM CELLS

The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York

(2009) Patricia K Duffner et al.   GENETICS IN MEDICINE

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

Newborn Screening for Krabbe Disease: the New York State Model

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

Chronic Bacterial and Viral Infections in Neurodegenerative and Neurobehavioral Diseases

(2008) Garth L. Nicolson   Labmedicine