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PMID: 11050619 Published · ppublish English Journal Article

Rho proteins and the cellular mechanisms of mental retardation.

American journal of medical genetics ·Vol. 94 ·No. 5 ·2000-10-23 ·Pages 367-71

Ramakers GJ

Abstract

The biological basis of mental retardation is poorly understood. Mental retardation is associated with an immature morphology of synaptic spines, structures involved in neurotransmission and memory processes, suggesting that mental retardation is due to a deficiency in neuronal network formation. Recently, several genes involved in X-linked mental retardation (MRX) have been cloned. Investigation of the roles of these genes in neuronal development and function should lead to a better understanding of the cellular mechanisms underlying mental retardation. A significant number of MRX genes is directly involved in signal transduction through Rho proteins. These Rho proteins act as molecular switches which integrate extracellular and intracellular signals to regulate rearrangement of the actin cytoskeleton. Since the actin cytoskeleton mediates neuronal motility and morphogenesis, one can envision how mutations in proteins involved in Rho-dependent signaling result in mental retardation by altering neuronal network formation.

MeSH Terms
Genetic Linkage Humans Intellectual Disability/genetics,physiopathology Signal Transduction X Chromosome/genetics rho GTP-Binding Proteins/physiology
Chemicals
rho GTP-Binding Proteins
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Ramakers G J
Neurons and Networks, Netherlands Institute for Brain Research, Amsterdam, The Netherlands. G.Ramakers@NIH.KNAW.NL
Article Info
Journal
American journal of medical genetics
Abbr.
Am J Med Genet
ISSN
0148-7299
Published
2000-10-23
Pages
367-71
Language
English
Region
United States
NLM ID
7708900
Subset
IM
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