Results 61 to 70 of about 4,156 (218)
Molecular Autism, 2018 Background Lowe syndrome (LS) is a rare genetic disorder caused by loss of function mutations in the X-linked gene, OCRL, which codes for inositol polyphosphate 5-phosphatase.
Jesse Barnes +5 more
doaj +1 more source
Structures of Ras superfamily effector complexes: What have we learnt in two decades? [PDF]
, 2015 The Ras superfamily small G proteins are master regulators of a diverse range of cellular processes and act via downstream effector molecules. The first structure of a small G protein-effector complex, that of Rap1A with c-Raf1, was published 20 years ...
Mott, Helen R, Owen, Darerca
core +1 more source
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
core +1 more source
International Journal of Ophthalmology, 2021 Department of Genetics, Babol University of Medical Sciences, Babol 4717647745, Iran North Research Center, Pasteur Institute of Iran, Amol 4619332976, Iran Department of Ophthalmology, Rouhani Hospital, Babol University of Medical Sciences, Babol ...
Alireza Paniri +3 more
semanticscholar +1 more source
INPP5E Preserves Genomic Stability through Regulation of Mitosis [PDF]
, 2017 The partially understood phosphoinositide signaling cascade regulates multiple aspects of cellular metabolism. Previous studies revealed that INPP5E, the inositol polyphosphate-5-phosphatase that is mutated in the developmental disorders Joubert and MORM
Cerabona, D +8 more
core +2 more sources
Phosphoinositides and engulfment [PDF]
, 2014 Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/108686/1/cmi12334 ...
Swanson, Joel A.
core +1 more source
A PH domain within OCRL bridges clathrin‐mediated membrane trafficking to phosphoinositide metabolism [PDF]
The EMBO Journal, 2009 OCRL, whose mutations are responsible for Lowe syndrome and Dent disease, and INPP5B are two similar proteins comprising a central inositol 5-phosphatase domain followed by an ASH and a RhoGAP-like domain. Their divergent NH2-terminal portions remain uncharacterized.
Yuxin, Mao +8 more
openaire +2 more sources
Zdravniški Vestnik, 2018 Lowe syndrome is a rare X-linked multisystemic disorder, caused by mutation of the OCRL gene which encodes OCRL-1 protein. The disease is characterized by the triad of congenital cataracts, intellectual disability, and Fanconi-like proximal renal tubular
Eva Bahor, Rina Rus
doaj +1 more source
The Inositol 5-Phosphatase dOCRL Controls PI(4,5)P2 Homeostasis and Is Necessary for Cytokinesis [PDF]
, 2011 SummaryDuring cytokinesis, constriction of an equatorial actomyosin ring physically separates the two daughter cells. At the cleavage furrow, the phosphoinositide PI(4,5)P2 plays an important role by recruiting and regulating essential proteins of the ...
Amin A +13 more
core +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.In our African developmental disorder cohort, high confidence variants in the first 64 probands that underwent ES were confirmed using Sanger sequencing. Our study suggests that confirming exome sequencing results with an orthogonal approach like Sanger sequencing is unnecessary in a resource‐limited setting, when robust, context‐informed quality ...
Nadja Louw +10 more
wiley +1 more source