The characterization of Lowe Syndrome in a South African cohort [PDF]
, 2021 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.
Sulaiman-Baradien, Rizqa
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A new variant of Lowe oculocerebrorenal syndrome.
The Tohoku Journal of Experimental Medicine, 1980 A case is reported of a 5-year-old boy with Lowe syndrome. The patient was unusual in that he had only mild and transient acidosis with no rickets. The corneal opacities in the parents suggest that this disease might be autosomal recessive.
A, Furuse +6 more
openaire +3 more sources
Chlamydial infection from outside to inside [PDF]
, 2019 Chlamydia are obligate intracellular bacteria, characterized by a unique biphasic developmental cycle. Specific interactions with the host cell are crucial for the bacteria's survival and amplification because of the reduced chlamydial genome.
Gitsels, Arlieke +2 more
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The Turkish Journal of Pediatrics, 2013 Oculocerebrorenal syndrome of Lowe (OCRL) is a rare, X-linked disorder characterized by congenital cataracts, neonatal or infantile hypotonia, seizures, cognitive impairment, and renal tubular dysfunction.
Rezan Topaloğlu +2 more
doaj
Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis [PDF]
, 2017 We previously reported that Parkinson's disease (PD) kinase LRRK2 phosphorylates a subset of Rab GTPases on a conserved residue in their switch-II domains (Steger et al., 2016) (PMID: 26824392). Here, we systematically analyzed the Rab protein family and
Alessi, Dario R. +11 more
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Lowe syndrome caused by gloss deletion [PDF]
, 2021 Lowe syndrome (LS) is an X-linked disorder affecting the eyes, nervous system and kidneys, typically caused by missense or nonsense/frameshift OCRL mutations.
Goji, Aya +9 more
core
Identification of mitogen-activated protein kinase docking sites in enzymes that metabolize phosphatidylinositols and inositol phosphates [PDF]
, 2006 Background Reversible interactions between the components of cellular signaling pathways allow for the formation and dissociation of multimolecular complexes with spatial and temporal resolution and, thus, are an important means of integrating multiple ...
Buckley Colin T +2 more
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Studies of genetic variants in monogenic renal tubular disorders [PDF]
, 2019 The renal tubules are the functional unit of the kidneys, responsible for: reabsorption of many substances including ions, solutes and water; and the secretion of waste products.
Philpott, Charlotte Louise
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Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P2 hydrolysis in the plasma membrane. [PDF]
J Biol Chem, 2023 Chen H +13 more
europepmc +1 more source
Motile cilia defects in diseases other than primary ciliary dyskinesia:The contemporary diagnostic and research role for transmission electron microscopy [PDF]
, 2017 Ultrastructural studies have underpinned the cell biological and clinical investigations of the varied roles of motile cilia in health and disease, with a long history since the 1950s.
Afzelius BA +6 more
core +3 more sources