Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

Nature genetics - 1 Jun 1998

D'Adamo P, Menegon A, Lo Nigro C, Grasso M, Gulisano M, Tamanini F, Bienvenu T, Gedeon A K, Oostra B, Wu S K, Tandon A, Valtorta F, Balch W E, Chelly J, Toniolo D

Abstract excerpt

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-lin...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain
Share to Genetic Linkage
Share to Models, Molecular

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutagenesis, Site-Directed

Share to Mutation

Share to Polymorphism, Single-Stranded Conformational

Share to Protein Conformation

Share to Proto-Oncogene Proteins

Source

Identifiers

PMID: 9620768
DOI: 10.1038/487

Genes

GDI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9620768-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

Mutations in GDI1 are responsible for X-linked non-specific mental retardation.PMID 9620768Read ↗

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.Semantic proximity Read ↗

Mutations in GDI1 and X-linked non-specific mental retardation.Semantic proximity Read ↗

Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.Semantic proximity Read ↗

[Monogenic causes of nonspecific X-linked mental retardation molecular aspects].Semantic proximity Read ↗

Molecular dissection of guanine nucleotide dissociation inhibitor function in vivo. Rab-independent binding to membranes and role of Rab recycling factors.Semantic proximity Read ↗

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.Semantic proximity Read ↗

Impairment of cerebello-thalamo-frontal pathway in Rab-GDI mutated patients with pure mental deficiency.Semantic proximity Read ↗

Drosophila rab GDI mutants disrupt development but have normal Rab membrane extraction.Semantic proximity Read ↗

Molecular role for the Rab binding platform of guanine nucleotide dissociation inhibitor in endoplasmic reticulum to Golgi transport.Semantic proximity Read ↗

[Progress of functional study on MRX related genes].Semantic proximity Read ↗

At-GDI1 from Arabidopsis thaliana encodes a rab-specific GDP dissociation inhibitor that complements the sec19 mutation of Saccharomyces cerevisiae.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.