ArticleHuman genetics1996
Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel.
Article in Human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 72 citations in OpenAlex.
- Article
- Preclinical studies in Krabbe disease: A model for the investigation of novel combination therapies for lysosomal storage diseases.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Review
- A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy.Frontiers in neuroscience · 2022Review
- Hospitalization Burden and Incidence of Krabbe Disease.Journal of child neurology · 2022Article
- Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China.Frontiers in genetics · 2022Article
- Review
- Krabbe Disease: Prospects of Finding a Cure Using AAV Gene Therapy.Frontiers in medicine · 2021Review
- Achievements and beyond: Scientific trajectory of Professor Mohammad A. Rafi.BioImpacts : BI · 2021Article
- A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2018Article
- Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease.Journal of neuroscience research · 2016Article
- Biochemical, cell biological, pathological, and therapeutic aspects of Krabbe's disease.Journal of neuroscience research · 2016Review
- New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperones.Journal of neuroscience research · 2016Review
- Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2016Article
- Article
- Azasugar inhibitors as pharmacological chaperones for Krabbe disease.Chemical science · 2015Article
- Krabbe Disease in the Arab World.Journal of pediatric genetics · 2015Review
- Structural snapshots illustrate the catalytic cycle of β-galactocerebrosidase, the defective enzyme in Krabbe disease.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- A high-throughput screening assay using Krabbe disease patient cells.Analytical biochemistry · 2013Article
- Insights into Krabbe disease from structures of galactocerebrosidase.Proceedings of the National Academy of Sciences of the United States of America · 2011Article
- Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.Human mutation · 2010Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
Infantile Krabbe disease is a severe, fatal autosomal recessive disorder resulting from the deficiency of galactocerebrosidase (GALC) activity. It is relatively common in two separate inbred communities in Israel. In the Druze community in Northern Israel and two Moslem Arab villages located near Jerusalem the incidence of Krabbe disease is about 1 in 100-150 live births. With our cloning of the GALC gene, mutation analysis of these populations was undertaken. The Moslem Arabs were homozygous for two mutations in the GALC gene; a T-to-C transition at CDNA position 1637 (counting from the A of the initiation codon), which is considered a polymorphism and a G-to-A transition at position 1582, which changes the codon for aspartic acid to one for asparagine. The Druze patients are homozygous for a T-to-G transversion at position 1748, which changes the codon for isoleucine to one for serine. Expression studies confirmed the deleterious nature of these mutations. The development of a simple polymerase chain reaction (PCR) amplification and restriction enzyme digestion method to identify these alleles will lead to accurate carrier testing and improved genetic counseling for interested individuals in these communities.
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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.