Global ETD Search
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Showing 1 to 6 of 6 for “"Lowe syndrome"”.
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The characterization of Lowe Syndrome in a South African cohort
Oculocerebrorenal or Lowe Syndrome (OMIM #309000) is an X-linked recessive condition characterized by a triad of congenital cataracts, proximal renal tubular dysfunction, and variable central nervous system involvement. Nearly all affected boys will be hemizygous for a pathogenic variant in the …
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3D KIDNEY ORGANOIDS AS A PLATFORM FOR INVESTIGATING MONOGENIC DISEASES AND GENE THERAPY APPROACHES
… models of proximal tubulopathies such as Lowe syndrome, Fabry disease, and Cystinosis. These were characterised at the morphological and functional level, displaying pathology-relevant phenotypes useful for validating therapies such as Enzyme Replacement Therapy (ERT) and Substrate …
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Regulation of lipid signaling at the Golgi by the lipid phosphatases hSAC1 and OCRL1
… that is implicated in a severe X-linked disease, Lowe syndrome, which is characterized by congenital cataracts, Fanconi syndrome and mental retardation. How mutations in OCRL1 cause Lowe syndrome is unknown. The functional analysis of hSAC1 and OCRL1 in regulating Golgi PI(4)P and PI(4,5)P2 is the …
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Analisi molecolare in pazienti italiani con sindrome di Lowe
The oculocerebrorenal syndrome of Lowe (OCRL, also called OCRL1) is a rare X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. The gene responsible for OCRL encodes an inositol polyphosphate-5-phosphatase. We performed the molecular analysis in 20 Italian …
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Molecular mechanisms of Sorting nexin-9 in membrane triggered actin polymerisation
… disease of phospho- inositide lipid metabolism, Lowe syndrome. It’s multifaceted nature is attributed to its structure. The SH3-PX-BAR domains of SNX9 are able to integrate inter- actions with phosphatidylinositol phosphates (PIPs) at membranes, and membrane curvature sensing to trigger actin …
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A Physiological, Biochemical and Structural Analysis of Inositol Polyphosphate 5-Phosphatases from Arabidopsis thaliana and Humans
… stomata that are insensitive to ABA, and have lower basal and ABA-induced inositol (1,4,5)-trisphosphate [Ins(1,4,5)P₃] levels. In addition, At5PTase1 mRNA and protein levels are transiently regulated by ABA. These data strongly suggest that At5PTase1 can act as a signal terminator of ABA …