ArticleNature genetics1998
Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
Article in Nature genetics, 1998. 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 98 papers, 1 of them a synthesis that pooled it.
What it found
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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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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.
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Who cites it
98 citing papers in PubMed, 1 synthesis or guideline pooled it, 333 citations in OpenAlex.
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- Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.Brain : a journal of neurology · 2025Article
- Amplifications of EVX2 and HOXD9-HOXD13 on 2q31 in mature cystic teratomas of the ovary identified by array comparative genomic hybridization may explain teratoma characteristics in chondrogenesis and osteogenesis.Journal of ovarian research · 2024Article
- Function and regulation of Rab GTPases in cancers.Cell biology and toxicology · 2024Review
- Repercussion of Primary Nucleation Pathway: Dementia and Cognitive Impairment.Current aging science · 2024Review
- Macrocephaly and developmental delay caused by missense variants in RAB5C.Human molecular genetics · 2023Article
- Astrocytes in human central nervous system diseases: a frontier for new therapies.Signal transduction and targeted therapy · 2023Review
- Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome.BMC medical genomics · 2023Article
- Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.Neurology. Genetics · 2022Article
- Neuronal Cytoskeleton in Intellectual Disability: From Systems Biology and Modeling to Therapeutic Opportunities.International journal of molecular sciences · 2021Review
- Proteomics Study of Peripheral Blood Mononuclear Cells in Down Syndrome Children.Antioxidants (Basel, Switzerland) · 2020Article
- Membrane trafficking in health and disease.Disease models & mechanisms · 2020Review
- Statins and the Brain: More than Lipid Lowering Agents?Current neuropharmacology · 2019Review
- RAB37 interacts directly with ATG5 and promotes autophagosome formation via regulating ATG5-12-16 complex assembly.Cell death and differentiation · 2018Article
- Molecular control of Rab activity by GEFs, GAPs and GDI.Small GTPases · 2018Review
- Consequences of Rab GTPase dysfunction in genetic or acquired human diseases.Small GTPases · 2018Review
- Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.American journal of medical genetics. Part A · 2018Article
- Astroglial vesicular network: evolutionary trends, physiology and pathophysiology.Acta physiologica (Oxford, England) · 2018Review
- Impaired αGDI Function in the X-Linked Intellectual Disability: The Impact on Astroglia Vesicle Dynamics.Molecular neurobiology · 2017Article
38 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
15 authors at 7 institutions in 5 countries.
Funding
Abstract
Rab GDP-dissociation inhibitors (GDI) are evolutionarily conserved proteins that play an essential role in the recycling of Rab GTPases required for vesicular transport through the secretory pathway. We have found mutations in the GDI1 gene (which encodes uGDI) in two families affected with X-linked non-specific mental retardation. One of the mutations caused a non-conservative substitution (L92P) which reduced binding and recycling of RAB3A, the second was a null mutation. Our results show that both functional and developmental alterations in the neuron may account for the severe impairment of learning abilities as a consequence of mutations in GDI1, emphasizing its critical role in development of human intellectual and learning abilities.
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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.