ArticleAmerican journal of human genetics1999
Spectrum of mutations in alpha-mannosidosis.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 82 citations in OpenAlex.
- Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.Orphanet journal of rare diseases · 2015Trial
- Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis.Molecular genetics and metabolism reports · 2025Article
- A new view of missense mutations in α-mannosidosis using molecular dynamics conformational ensembles.Protein science : a publication of the Protein Society · 2025Article
- Digging out the Molecular Connections between the Catalytic Mechanism of Human Lysosomal α-Mannosidase and Its Pathophysiology.Journal of chemical information and modeling · 2025Article
- Article
- Review
- Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in theFrontiers in genetics · 2024Article
- A HomozygousGenes · 2023Article
- Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature.Orphanet journal of rare diseases · 2022Review
- High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Alpha-Mannosidosis: Therapeutic Strategies.International journal of molecular sciences · 2018Review
- LC3 Immunostaining in the Inferior Olivary Nuclei of Cats With Niemann-Pick Disease Type C1 Is Associated With Patterned Purkinje Cell Loss.Journal of neuropathology and experimental neurology · 2018Article
- Article
- Chronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis mice.Annals of clinical and translational neurology · 2015Article
- The natural course and complications of alpha-mannosidosis--a retrospective and descriptive study.Journal of inherited metabolic disease · 2014Article
- Exome sequencing can improve diagnosis and alter patient management.Science translational medicine · 2012Article
- Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients.Bone marrow transplantation · 2012Article
- The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?Journal of inherited metabolic disease · 2010Article
- A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.BMC genomics · 2009Article
- Patterns of positive selection in six Mammalian genomes.PLoS genetics · 2008Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
alpha-Mannosidosis is an autosomal recessive disorder caused by deficiency of lysosomal alpha-mannosidase (LAMAN). The resulting intracellular accumulation of mannose-containing oligosaccharides leads to mental retardation, hearing impairment, skeletal changes, and immunodeficiency. Recently, we reported the first alpha-mannosidosis-causing mutation affecting two Palestinian siblings. In the present study 21 novel mutations and four polymorphic amino acid positions were identified by the screening of 43 patients, from 39 families, mainly of European origin. Disease-causing mutations were identified in 72% of the alleles and included eight splicing, six missense, and three nonsense mutations, as well as two small insertions and two small deletions. In addition, Southern blot analysis indicated rearrangements in some alleles. Most mutations were private or occurred in two or three families, except for a missense mutation resulting in an R750W substitution. This mutation was found in 13 patients, from different European countries, and accounted for 21% of the disease alleles. Although there were clinical variations among the patients, no significant LAMAN activity could be detected in any of the fibroblast cultures. In addition, no correlation between the types of mutations and the clinical manifestations was evident.
Indexed as
Identifiers
What 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.