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A novel X-linked gene, G4.5. is responsible for Barth syndrome
- S. Bione, P. D’Adamo, E. Maestrini, A. Gedeon, P. Bolhuis, D. Toniolo
- Biology, MedicineNature Genetics
- 1 April 1996
The results suggest that G4.5 is the genetic locus responsible for the Barth syndrome, and introduces stop codons in the open reading frame interrupting translation of most of the putative proteins.
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
Conditioned taste aversion as a learning and memory paradigm
Mutations in GDI1 are responsible for X-linked non-specific mental retardation
The 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.
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
The sequence analysis of 11 additional familial cases is reported, which suggests that very severe phenotypes may be associated with null mutations in the gene, whereas mutations in alternative portions or missense mutations may give a "less severe" phenotype.
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.
- I. Meloni, M. Bruttini, A. Renieri
- Psychology, BiologyAmerican journal of human genetics
- 1 October 2000
A three-generation family in which two affected males showed severe mental retardation and progressive spasticity and two obligate carrier females showed either normal or borderline intelligence, simulating an X-linked recessive trait are reported, demonstrating that, in males, MECP2 can be responsible for severemental retardation associated with neurological disorders.
Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice.
In mice, as in humans, lack of Gdi1 spares most central nervous system functions and preferentially impairs only a few forebrain functions required to form temporal associations, and the general similarity to human mental retardation is striking, and suggests that the GDI1 mutants may provide insights into the human defect and into the molecular mechanisms important for development of cognitive functions.
The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition
RAB39B downregulation in mouse hippocampal neurons skews AMPAR composition towards non GluA2-containing Ca2+-permeable forms and thereby alters synaptic activity, specifically in hippocampusal neurons, and it is posit that the resulting alteration in synaptic function underlies cognitive dysfunction in RAB39B-related disorders.