Results 41 to 50 of about 731 (137)

Inositol polyphosphate 5‐phosphatases; new players in the regulation of cilia and ciliopathies

FEBS Letters, Volume 586, Issue 18, Page 2846-2857, August 31, 2012., 2012
Phosphoinositides regulate numerous cellular events via the recruitment and activation of multiple lipid‐binding effector proteins. The precise temporal and spatial regulation of phosphoinositide signals by the co‐ordinated activities of phosphoinositide kinases and phosphatases is essential for homeostasis and development.
Sarah E. Conduit, Jennifer M. Dyson, Christina A. Mitchell   +2 more
wiley   +1 more source

Childhood glaucoma: Implications for genetic counselling

Clinical Genetics, Volume 106, Issue 5, Page 545-563, November 2024.
Venn diagram representation of genes for which pathogenic variants have been identified to cause various types of childhood glaucoma. This diagram represents the genetic and phenotypic heterogeneity of childhood glaucoma illustrating the need for informed genetic counselling and testing as part of a multidisciplinary approach.
Giorgina Maxwell, Emmanuelle Souzeau
wiley   +1 more source

Diversified Carbohydrate‐Binding Lectins from Marine Resources

Journal of Amino Acids, Volume 2011, Issue 1, 2011., 2011
Marine bioresources produce a great variety of specific and potent bioactive molecules including natural organic compounds such as fatty acids, polysaccharides, polyether, peptides, proteins, and enzymes. Lectins are also one of the promising candidates for useful therapeutic agents because they can recognize the specific carbohydrate structures such ...
Tomohisa Ogawa, Mizuki Watanabe, Takako Naganuma, Koji Muramoto, Faouzi Ben Rebah   +4 more
wiley   +1 more source

The effects of systemic diseases, genetic disorders and lifestyle on keloids

International Wound Journal, Volume 21, Issue 4, April 2024.
Abstract Keloid are a fibroproliferative disorder caused by abnormal healing of skin, specifically reticular dermis, when subjected to pathological or inflammatory scars demonstrating redness, elevation above the skin surface, extension beyond the original wound margins and resulting in an unappealing cosmetic appearance.
Guangpeng Xia, Teruyuki Dohi, Mohamed Abdelhakim, Mamiko Tosa, Rei Ogawa   +4 more
wiley   +1 more source

Complex and Multidimensional Lipid Raft Alterations in a Murine Model of Alzheimer′s Disease

International Journal of Alzheimer’s Disease, Volume 2010, Issue 1, 2010., 2010
Various animal models of Alzheimer′s disease (AD) have been created to assist our appreciation of AD pathophysiology, as well as aid development of novel therapeutic strategies. Despite the discovery of mutated proteins that predict the development of AD, there are likely to be many other proteins also involved in this disorder.
Wayne Chadwick, Randall Brenneman, Bronwen Martin, Stuart Maudsley, Gemma Casadesus   +4 more
wiley   +1 more source

Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome

Pediatria Polska
Lowe syndrome (oculocerebrorenal syndrome of Lowe – LS) is an ultra-rare, recessive X-linked, multisystem disorder that primarily occurs in males and affects the eyes, nervous system, and kidneys.
Adam Jan Strzoda, Aleksandra Sobieszczańska-Droździel, Magdalena Kamińska   +2 more
doaj   +1 more source

Structural characterization of the Sel1‐like repeat protein LceB from Legionella pneumophila

Protein Science, Volume 33, Issue 3, March 2024.
Abstract Legionella are freshwater Gram‐negative bacteria that in their normal environment infect protozoa. However, this adaptation also allows Legionella to infect human alveolar macrophages and cause pneumonia. Central to Legionella pathogenesis are more than 330 secreted effectors, of which there are nine core effectors that are conserved in all ...
Tiffany V. Penner, Neil Lorente Cobo, Deepak T. Patel, Dhruvin H. Patel, Alexei Savchenko, Ann Karen C. Brassinga, Gerd Prehna   +6 more
wiley   +1 more source

Structure–function relationships underpin disulfide loop cleavage‐dependent activation of Legionella pneumophila lysophospholipase A PlaA

Molecular Microbiology, Volume 121, Issue 3, Page 497-512, March 2024.
The 3D structure of PlaA shows a typical α/β‐hydrolase fold and reveals that a disulfide loop forms a lid structure covering the catalytic triad S30/D278/H282. After disulfide loop processing by ProA, access of lipid substrates to the catalytic site is facilitated and thus leads to an increase of LPLA activity.
Miriam Hiller, Maurice Diwo, Sabrina Wamp, Thomas Gutsmann, Christina Lang, Wulf Blankenfeldt, Antje Flieger   +6 more
wiley   +1 more source

The impact of phosphoinositide 5-phosphatases on phosphoinositides in cell function and human disease

Journal of Lipid Research, 2019
Phosphoinositides (PIs) are recognized as major signaling molecules in many different functions of eukaryotic cells. PIs can be dephosphorylated by multiple phosphatase activities at the 5-, 4-, and 3- positions.
Ana Raquel Ramos, Somadri Ghosh, Christophe Erneux   +2 more
doaj   +1 more source

A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome

The Turkish Journal of Pediatrics, 2013
Oculocerebrorenal syndrome, also known as Lowe syndrome, is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome.
Ali Kanık, Belde Kasap-Demir, Rüya Ateşli, Kayı Eliaçık, Onder Yavaşcan, Mehmet Helvacı   +5 more
doaj