X-Linked 30 Mental Retardation

Also Known As:

Mental Retardation, X-Linked 30; MRX30

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - X-Linked Mental Retardation: 272
        X-Linked 30 Mental Retardation: 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - X-Linked Mental Retardation: 272
      - X-Linked 30 Mental Retardation: 4
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 272
      - X-Linked 30 Mental Retardation: 4

Related Diseases

1.	Intellectual Disability (Idiocy)
2.	X-Linked 47 Mental Retardation

Experts

1.	Alberi, Stefano: 1 article (12/2004)
2.	Boda, Bernadett: 1 article (12/2004)
3.	Jourdain, Pascal: 1 article (12/2004)
4.	Moosmayer, Marlyse: 1 article (12/2004)
5.	Muller, Dominique: 1 article (12/2004)
6.	Nikonenko, Irina: 1 article (12/2004)
7.	Node-Langlois, Roxanne: 1 article (12/2004)
8.	Parisi-Jourdain, Lorena: 1 article (12/2004)
9.	Alloisio, Nicole: 1 article (09/2003)
10.	Bozon, Muriel: 1 article (09/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to X-Linked 30 Mental Retardation:

1.	p21-Activated KinasesIBA 09/15/2003 - "This interval contains two genes associated with non-syndromic mental retardation (NSMR), namely the PAK3 gene, encoding a p21-activated kinase (MRX30 and MRX47) and the FACL4 gene encoding a fatty acyl-CoA ligase (MRX63). "
2.	Small Interfering RNA (siRNA)IBA 12/01/2004 - "Here we show, using a transient transfection approach, that antisense and small interfering RNA-mediated suppression of PAK3 or expression of a dominant-negative PAK3 carrying the human MRX30 mutation in rat hippocampal organotypic slice cultures results in the formation of abnormally elongated dendritic spines and filopodia-like protrusions and a decrease in mature spine synapses. "
3.	Nonsense Codon (Nonsense Mutation)IBA 08/14/2000 - "This confirms the involvement of PAK3 in MRX following the report of a nonsense mutation recently reported in MRX30. "
4.	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 09/01/1998 - "Affected individuals in a multiplex pedigree with MRX (MRX30), previously mapped to Xq22, show a point mutation in the PAK3 (p21-activated kinase) gene, which encodes a serine-threonine kinase. "
5.	Ligases (Synthetase)IBA 09/15/2003 - "This interval contains two genes associated with non-syndromic mental retardation (NSMR), namely the PAK3 gene, encoding a p21-activated kinase (MRX30 and MRX47) and the FACL4 gene encoding a fatty acyl-CoA ligase (MRX63). "
6.	Acyl Coenzyme A (Acyl CoA)IBA 09/15/2003 - "This interval contains two genes associated with non-syndromic mental retardation (NSMR), namely the PAK3 gene, encoding a p21-activated kinase (MRX30 and MRX47) and the FACL4 gene encoding a fatty acyl-CoA ligase (MRX63). "