Most common NOTCH3 mutations causing CADASIL or CADASIL-like cerebral small vessel disease: A systematic review.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a monogenic disorder caused by mutations in the gene. The main aim of our survey was to determine if there is an association between phenotypes and genotypes across the most common mutations found in CADASIL patients. We systematically searched clinical studies and genomic databases from 1996 to 2023 to first identify the most common mutations responsible for CADASIL.

Relationship of metabolism of 2'-, 3'- and 5'-adenine nucleotides to presynaptic inhibition of transmitter release in rat vas deferens.

In the isolated rat vas deferens stimulated at 0.2 Hz, a series of 2'-, 3'-, and 5'-substituted adenine nucleotides all inhibited the twitch responses, their actions being potentiated by the nucleoside transport inhibitors, HNBTGR, NBMPR and dipyridamole. The metabolism of these nucleotides was examined utilizing HPLC analysis of the bathing medium after exposure to 30 microM nucleoside or nucleotide for 5 min.