2005
DOI: 10.1038/ng1517
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Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Abstract: Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia. We identified homozygous inactivating mutations in RAB3GAP, encoding RAB3 GTPase activating protein, a key regulator of the Rab3 pathway implicated in exocytic release of neurotransmitters and hormones, in 12 families with Micro syndrome. We hypothesize that the underlying pathogenesis of Micro syndrome is a failure of exocytic releas… Show more

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Cited by 210 publications
(192 citation statements)
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“…This observation suggests that Rab3 GAP inactivates Rab3A in nerve terminals and thereby regulates neurotransmitter release and synaptic plasticity. Consistent with this prediction, mutations in p130 have recently been reported to cause Warburg Micro syndrome with severe mental retardation (17).…”
mentioning
confidence: 54%
“…This observation suggests that Rab3 GAP inactivates Rab3A in nerve terminals and thereby regulates neurotransmitter release and synaptic plasticity. Consistent with this prediction, mutations in p130 have recently been reported to cause Warburg Micro syndrome with severe mental retardation (17).…”
mentioning
confidence: 54%
“…10 These features are also found in the closely related Martsolf syndrome (OMIM 212720), which is caused by RAB3GAP2 mutations (chromosome 1). 11 However, none of the syndromes mentioned above fits convincingly the siblings reported here.…”
Section: Discussionmentioning
confidence: 92%
“…Moreover, studies in mice models have shown that lack of GDI leads to altered Rab4/5 distribution and impaired short-term memory (D'Adamo et al, 2002). Rab3 for instance, has been shown to be regulated by Rab3 GAP, a protein involved in Warburg Micro syndrome, characterized by abnormal brain development and severe intellectual disability (Aligianis et al, 2005). In animal models, mutated Rab3 GAP has been shown to lead to accumulation of GTP-bound Rab3 and result in inhibition of glutamate release and altered short-term plasticity (Sakane et al, 2006).…”
Section: Genementioning
confidence: 99%