ArticleAmerican journal of human genetics1996
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 34 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
34 citing papers in PubMed, 96 citations in OpenAlex.
- Late-Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review.Molecular genetics & genomic medicine · 2025Review
- Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.European journal of human genetics : EJHG · 2023Article
- 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
- Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease.Neurobiology of disease · 2022Article
- A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.Neurogenetics · 2022Review
- A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy.Frontiers in neuroscience · 2022Review
- Two Cases of Female Chinese Adult-Onset Krabbe Disease with One Novel Mutation and a Review of Literature.Journal of molecular neuroscience : MN · 2021Review
- Adult Krabbe Disease That Was Successfully Treated with Intravenous Immunoglobulin.Internal medicine (Tokyo, Japan) · 2021Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- DeepPheno: Predicting single gene loss-of-function phenotypes using an ontology-aware hierarchical classifier.PLoS computational biology · 2020Article
- The mechanism of glycosphingolipid degradation revealed by a GALC-SapA complex structure.Nature communications · 2018Article
- Article
- Biochemical, cell biological, pathological, and therapeutic aspects of Krabbe's disease.Journal of neuroscience research · 2016Review
- Newborn screening for Krabbe's disease.Journal of neuroscience research · 2016Review
- Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease.Journal of neuroscience research · 2016Article
- Beyond Krabbe's disease: The potential contribution of galactosylceramidase deficiency to neuronal vulnerability in late-onset synucleinopathies.Journal of neuroscience research · 2016Article
- Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.Traffic (Copenhagen, Denmark) · 2016Article
- Newborn screening for Krabbe disease in New York State: the first eight years' experience.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- 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
Corrections and comments
- Erratum issued
Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Globoid-cell leukodystrophy (GLD) is an autosomal recessive inherited disorder caused by the deficiency of galactocerebrosidase, the lysosomal enzyme responsible for the degradation of the myelin glycolipid galactocerebroside. Although the most common form of the disease is the classical infantile form (Krabbe disease), later-onset forms also have been described. We have analyzed the galactocerebrosidase gene in 17 patients (nine families) with late-onset GLD and in 1 patient with classical Krabbe disease. Half of the patients were heterozygous for the large gene deletion associated with the 502C-->T polymorphism, the most common mutation in infantile patients. Several novel mutations that result in deficient galactocerebrosidase activity were also identified in these patients. They include the missense mutations R63H, G95S, M101L, G268S, Y298C, and I234T; the nonsense mutation S7X; a one-base deletion (805delG); a mutation that interferes with the splicing of intron 1; and a 34-nt insertion in the RNA, caused by the aberrant splicing of intron 6. All of these genetic defects are clustered in the first 10 exons of the galactocerebrosidase gene and therefore affect the 50-kD subunit of the mature enzyme. Studies on the distribution and enzymatic activity of the polymorphic alleles 1637T/C (I546/T546) provided support for previous data that had indicated the existence of two galactocerebrosidase forms with different catalytic activities in the general population. Our data also indicate that the mutations occur preferentially in the "low activity" 1637C allele.
Indexed as
Identifiers
8940268PMC1914878W1840205812What OpenQuestion holds
Registered trials
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.