Mental Retardation - Enzymology
Research News and Information

Monday, November 23, 2009

Calcium/calmodulin-dependent serine protein kinase and mental retardation.

29 Sep 2009 Calcium/calmodulin-dependent serine protein kinase (CASK) belongs to the membrane-associated guanylate kinase protein family. The members of this protein family function as multiple domain adaptor proteins originally identified at cell junctions and ... Read more...

Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.

15 Aug 2009 Mutations in the HSD17B10 gene were identified in two previously described mentally retarded males. A point mutation c.776G>C was found from a survivor (SV), whereas a potent mutation, c.419C>T, was identified in another deceased case (SF) with ... Read more...

Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.

14 Jun 2009 Adenylosuccinate lyase (ASL), a catalyst of key reactions in purine biosynthesis, is normally a homotetramer in which three subunits contribute to each of four active sites. Human ASL deficiency is an inherited metabolic disease associated with ... Read more...

Latest indexed articles for 'Mental Retardation - Enzymology'

These are the very latest articles for this heading:

• Calcium/calmodulin-dependent serine protein kinase and mental retardation. 29 Sep 2009
• Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism. 15 Aug 2009
• Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. 14 Jun 2009
• No association between SRGAP3/MEGAP haploinsufficiency and mental retardation. 29 Apr 2009
• Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation. 14 Nov 2008
• Lack of association between MTHFR C677T and MTHFR A1298C genetic polymorphisms and mental retardation. 29 Sep 2008
• Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation. 30 Jan 2008
• Regulation of turnover of tumor suppressor p53 and cell growth by E6-AP, a ubiquitin protein ligase mutated in Angelman mental retardation syndrome. 30 Jan 2008
• The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. 27 Jan 2008
• Distinct, but compensatory roles of PAK1 and PAK3 in spine morphogenesis. 30 Dec 2007
• Specific cleavage of agrin by neurotrypsin, a synaptic protease linked to mental retardation. 20 Jun 2007
• Mevalonic aciduria: report of two cases. 19 Jun 2007
• Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration. 30 May 2007
• Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency. 15 Apr 2007
• Rho GTPases: role in dendrite and axonal growth, mental retardation, and axonal regeneration. 15 Apr 2007
• Analysis of monoamine oxidase A promoter polymorphism in mentally retarded individuals. 30 Jan 2007
• Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. 27 Nov 2006
• High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. 12 Nov 2006
• Association of adenosine deaminase polymorphism with mild mental retardation. 30 Aug 2006
• Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. 17 Jul 2006

See a longer list of these articles.

Technical information about 'Mental Retardation'

Definition: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded. IQ scores between 70 and 79 are in the borderline mentally retarded range. Scores below 67 are in the retarded range. (Joynt, Clinical Neurology, 1992, Ch55, p28)

Descriptor UI: D008607

Alternative terms: Mental Retardation; Retardation, Mental; Idiocy; Deficiency, Mental; Deficiencies, Mental; Mental Deficiencies; Mental Deficiency; Mental Retardation, Psychosocial; Mental Retardations, Psychosocial; Psychosocial Mental Retardation; Psychosocial Mental Retardations; Retardation, Psychosocial Mental; Retardations, Psychosocial Mental;

Related Mesh Headings: Abnormalities, Multiple; Cockayne Syndrome; Congenital Hypothyroidism; Cri-du-Chat Syndrome; De Lange Syndrome; Down Syndrome; Education of Mentally Retarded; Fragile X Syndrome; Laurence-Moon Syndrome; Prader-Willi Syndrome; Rubinstein-Taybi Syndrome; Rett Syndrome; Angelman Syndrome; Williams Syndrome; Mentally Disabled Persons; Brain Diseases, Metabolic, Inborn; Bardet-Biedl Syndrome;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; urine; veterinary; ultrasonography; virology;

Tree Number: C10.597.606.643; C23.888.592.604.646; F01.700.687; F03.550.600;

History Note: 1967(1963)

Technical Notes: use Cat C qualif; /rehabil permitted: do not equate with EDUCATION OF MENTALLY RETARDED