Accès ouvert
2026
article
OpenAlex
Mahtab Tavasoli, Mariam Alkandari, Gabriel Dorighello, Jennifer Devitt et autres
Loss-of-function variants of the CHKB gene cause an autosomal recessive disease described as an early onset congenital megaconial (large peripheral mitochondria) muscular dystrophy. CHKB encodes choline kinase β, the first enzyme in the biochemical pathway for synthesis of the major membrane phospholipid …
ca, us
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Accès ouvert
2026
conference-abstract
OpenAlex
Jacob Oliver Day, Allison A. Newman, Mariam Alkandari, K Bakur et autres
The Kennedy pathways control the de novo synthesis of phosphatidylcholine (PC) and phospha-tidylethanolamine (PE), which are the most abundant phospholipids in mammalian membranes and are enriched in the brain. Recently, variants in genes encoding Kennedy pathway enzymes have been associated with rare …
gb, ca, sa, de
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Accès ouvert
2025
article
OpenAlex
Hirad A. Feridooni, Rachel Fody, Mahtab Tavasoli, Mariam Alkandari et autres
Familial exudative vitreoretinopathy (FEVR) is an inherited childhood blinding disorder with close to 85% of molecularly determined cases due to rare variants in gene encoding members of the frizzled 4 (FZD4) receptor complex.FEVR causes blindness due to complications arising from developmental peripheral …
ca
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Accès ouvert
2025
article
OpenAlex
Mahtab Tavasoli, Mariam Alkandari, Gabriel G. Dorighello, Michael J. McPhee et autres
Biallelic variants in CHKA, which encodes the first enzyme in the CDP-choline pathway for the synthesis of phosphatidylcholine, cause an inherited disorder characterized by epilepsy, microcephaly, and intellectual disability. How a deficiency in CHKA activity manifests these neurological symptoms is poorly understood. …
ca, gb, in, Égypte
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Accès ouvert
2025
article
OpenAlex
Mariam Alkandari, Christopher R. McMaster, Mahtab Tavasoli
probe, in cells, followed by fluorescence image acquisition using confocal microscopy and subsequent image processing. • Adaptable to various cell types and experimental conditions. • Presents detailed instructions for reagent preparation, fluorescence measurement, and quantification.
ca
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