ArticleProceedings of the National Academy of Sciences of the United States of America1994
Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 186 citations in OpenAlex.
- Clinical and biochemical abnormalities in a feline model of GM2 activator deficiency.Molecular genetics and metabolism · 2025Article
- Widespread correction of brain pathology in feline alpha-mannosidosis by dose escalation of intracisternal AAV vector injection.Molecular therapy. Methods & clinical development · 2024Article
- Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in theFrontiers in genetics · 2024Article
- Review
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- Companion animal models of neurological disease.Journal of neuroscience methods · 2020Review
- Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments.Annals of neurology · 2019Review
- Peripherally derived macrophages can engraft the brain independent of irradiation and maintain an identity distinct from microglia.The Journal of experimental medicine · 2018Article
- Alpha-Mannosidosis: Therapeutic Strategies.International journal of molecular sciences · 2018Review
- Canine and Feline Models of Human Genetic Diseases and Their Contributions to Advancing Clinical Therapies .The Yale journal of biology and medicine · 2017Review
- Skeletal Dysplasias: Growing Therapy for Growing Bones.Frontiers in pharmacology · 2017Review
- Suppression of the motor deficit in a mucolipidosis type IV mouse model by bone marrow transplantation.Human molecular genetics · 2016Article
- Diffusion Tensor Imaging for Assessing Brain Gray and White Matter Abnormalities in a Feline Model of α-Mannosidosis.Journal of neuropathology and experimental neurology · 2016Article
- The effects of intracisternal enzyme replacement versus sham treatment on central neuropathology in preclinical canine fucosidosis.Orphanet journal of rare diseases · 2015Article
- Chronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis mice.Annals of clinical and translational neurology · 2015Article
- Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients.Bone marrow transplantation · 2012Article
- Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment.Journal of inherited metabolic disease · 2011Article
- Impaired lysosomal trimming of N-linked oligosaccharides leads to hyperglycosylation of native lysosomal proteins in mice with alpha-mannosidosis.Molecular and cellular biology · 2010Article
- In utero transplantation of monocytic cells in cats with alpha-mannosidosis.Transplantation · 2009Article
- Large animal models of neurological disorders for gene therapy.ILAR journal · 2009Review
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Neuronal storage disorders are fatal neurodegenerative diseases of humans and animals that are caused by inherited deficiencies of lysosomal hydrolase activity. Affected individuals often appear normal at birth but eventually develop progressive neurologic symptoms including sensory and motor deficits, mental retardation, and seizures. We have examined efficacy of bone marrow transplantation as a means of enzyme replacement, using cats with the lysosomal storage disease alpha-mannosidosis. Treated animals showed little or no progression of neurologic signs 1-2 years after transplant, whereas untreated cats became severely impaired and reached endstage disease by 6 months of age. Increased lysosomal alpha-mannosidase activity was found in brain tissue of the treated animals, and electron microscopy revealed no evidence of lysosomal storage within most neurons. Histochemical localization of acidic alpha-D-mannoside mannohydrolase (EC 3.2. 1.24), using 5-bromo-4-chloro-3-indolyl alpha-D-mannopyranoside, showed that functional enzyme was present in neurons, glial cells, and cells associated with blood vessels. This study provides direct evidence that bone marrow transplantation as treatment for a neuronal storage disease can lead to significant levels of a missing lysosomal hydrolase within neurons of the central nervous system and to compensation for the genetic metabolic defect.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.