ArticleJournal of inherited metabolic disease1995
Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies.
Article in Journal of inherited metabolic disease, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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
7 citing papers in PubMed, 25 citations in OpenAlex.
- Phenotypic consequences of GBA1 pathological variant R463C (p.R502C).American journal of medical genetics. Part A · 2024Article
- Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.Molecular genetics and metabolism reports · 2020Article
- Variants associated with Gaucher disease in multiple system atrophy.Annals of clinical and translational neurology · 2015Article
- Loss of β-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells.PloS one · 2013Article
- Inhibition of endoplasmic reticulum-associated degradation rescues native folding in loss of function protein misfolding diseases.The Journal of biological chemistry · 2011Article
- Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.European journal of pediatrics · 2004Review
- Analysis of three mutations in Turkish children with Gaucher disease.Journal of inherited metabolic disease · 1999Article
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 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gaucher disease is the most frequent lysosomal storage disease in Greece, accounting for 24% of all lysosomal disorders diagnosed during the last 13 years at the Institute of Child Health in Athens. The nature of the defects in glucocerebrosidase in Greek Gaucher patients with non-neuronopathic (type 1) and neuronopathic (types 2 and 3) phenotypes was investigated at the level of the glucocerebrosidase gene and enzyme activity. Mutation analysis performed in 10/23 Gaucher patients with different types of the disorder led to the identification of four mutations, N370S, L444P, R463C and D409H, comprising 75% of the investigated alleles. N370S was only found in association with type 1 disease. The genotype D409H/R463C was identified for the first time and was associated with the severe type 2 disorder. There was no correlation between residual in vitro enzyme activity and either phenotype or genotype. However, in cultured fibroblast of the neuronopathic cases, glucocerebrosidase protein concentration was reduced and the capacity to degrade exogenous C6NBD-glucosylceramide was more severely impaired.
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.