Publications by authors named "Rhouda H"
Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants.
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- * A study examined 28 patients from 18 families with loss of function (LOF) variants, revealing a spectrum of neurological and developmental issues including global developmental delay, intellectual disabilities, microcephaly, and behavioral abnormalities.
- * Research using fruit flies showed that mutations in the RBF gene mirrored symptoms seen in patients, affecting brain morphology and movement, and highlighted the importance of ongoing RBL2 expression in mature neurons for normal locomotion, suggesting potential therapeutic avenues.
Gaucher disease (GD) is a lysosomal storage disorder caused by glucocerebrosidase (GBA) deficiency. There are three subcategories of GD: Type 1 is characterized by the absence of primary central nervous system involvement; type 2 is an acute neuropathic disorder; and type 3 is chronic neuropathic. The correlation between genotype and phenotype is sometimes difficult to establish.
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