Results 31 to 40 of about 2,303 (190)

Characterization of Two Distinct Structural Classes of Selective Aldehyde Dehydrogenase 1A1 Inhibitors. [PDF]

, 2015
Aldehyde dehydrogenases (ALDH) catalyze the irreversible oxidation of aldehydes to their corresponding carboxylic acid. Alterations in ALDH1A1 activity are associated with such diverse diseases as cancer, Parkinson?s disease, obesity, and cataracts ...
Hurley, Thomas D., Morgan, Cynthia A.
core   +1 more source

Você conhece esta síndrome? Do you know this syndrome?

Anais Brasileiros de Dermatologia, 2010
Relatamos um caso típico, em um paciente masculino de 20 anos, da síndrome de Sjögren-Larsson, que é uma doença neurocutânea, autossômica recessiva e incapacitante, caracterizada por ictiose congênita, plegia espástica e retardo mental.
Marcela Duarte Villela Benez, Elisa Fontenelle, Brunela Bastos Tozzi, Carolina Presotto   +3 more
doaj   +1 more source

Chronic granulomatous disease, the McLeod phenotype and the contiguous gene deletion syndrome-a review [PDF]

, 2011
Chronic Granulomatous Disease (CGD), a disorder of the NADPH oxidase system, results in phagocyte functional defects and subsequent infections with bacterial and fungal pathogens (such as Aspergillus species and Candida albicans). Deletions and missense,
Casey E Watkins, Eunkyung Song, Gayatri B Jaishankar, Guha Krishnaswamy, John Litchfield, Michelle Duffourc, Nikhil Holla, Niva Misra   +7 more
core   +3 more sources

Wiskott-Aldrich syndrome protein-mediated actin dynamics control type-I interferon production in plasmacytoid dendritic cells [PDF]

, 2013
Mutations in Wiskott-Aldrich syndrome (WAS) protein (WASp), a regulator of actin dynamics in hematopoietic cells, cause WAS, an X-linked primary immunodeficiency characterized by recurrent infections and a marked predisposition to develop autoimmune ...
Agrawal, Alessandro Aiuti, Altfeld, Andreansky, Anna Villa, Astrakhan, Ayse Metin, Badour, Baechler, Baechler, Barrat, Becker-Herman, Björck, Blanco, Blomberg, Bosticardo, Bosticardo, Bouma, Båve, Båve, Cancro, Cao, Caterina Cancrini, de Noronha, Derivery, Ding, Duan, Dupré, Dupuis-Girod, Elisa Bonomi, Emamian, Escoll, Federica Benvenuti, Fleck, Francesca Prete, Gallego, Garcia-Romo, Gilliet, Gilliet, Gismondi, Gottenberg, Guiducci, Honda, Humblet-Baron, Humphreys-Beher, Imai, Ito, Itoh, Jego, Jin, Kaksonen, Kanto, Kwok, Kwok, Lande, Latz, Le Bon, Le Bon, Leverrier, Litinskiy, Locci, Lorenzi, Luigi Daniele Notarangelo, Lövgren, Maillard, Marangoni, Marco Catucci, Maria Carmina Castiello, Mayrel Labrada, Means, Merrifield, Meyer-Bahlburg, Migita, Mirjam van der Burg, Morales-Tirado, Murai, Nestle, Nguyen, Nikolov, Ohashi, Orange, Pascual, Pau, Presicce, Prinz, Pulecio, Recher, Robbert Bredius, Sanjuan, Santiago-Raber, Sasahara, Sasai, Sasai, Shimizu, Sims, Snapper, Snapper, Sophie Hambleton, Stefania Gobessi, Strom, Takenawa, Thrasher, Trifari, Trifari, Tsuboi, Ulrich Kalinke, Vallin, van Baarsen, van der Pouw Kraan, Vermi, Vermi, Wengler, Westerberg, Westerberg, William Vermi, Zhu   +115 more
core   +9 more sources

Discovery of a series of aromatic lactones as ALDH1/2-directed inhibitors [PDF]

, 2015
In humans, the aldehyde dehydrogenase superfamily consists of 19 isoenzymes which mostly catalyze the NAD(P)(+)-dependent oxidation of aldehydes.
Buchman, Cameron D., Hurley, Thomas D., Mahalingan, Krishna K.   +2 more
core   +1 more source

Fatty aldehyde dehydrogenase, the enzyme downstream of tetrahydrobiopterin-dependent alkylglycerol monooxygenase

Pteridines, 2013
The tetrahydrobiopterin-dependent degradation of ether lipids by alkylglycerol monooxygenase (AGMO) produces fatty aldehydes, which are toxic to cells.
Keller Markus A., Watschinger Katrin, Golderer Georg, Werner-Felmayer Gabriele, Werner Ernst R.   +4 more
doaj   +1 more source

The liver is a common non-exocrine target in primary Sjögren's syndrome: A retrospective review [PDF]

, 2015
Background The autoimmune destruction of exocrine glands that defines primary Sjögren's syndrome (1°SS) often extends to non-exocrine organs including the liver.
Mariana J Kaplan, Robert W Ike, J Christianson, K Whaley, FN Skopuli, EB Tsianos, S Lindgren, N Masaki, J Webb, BU Hansen, A Archimandritis, D Alarcon-Segovia, SC Gumber, J Haddad, M Pirisi, CA Scott, J Coll, C Jorgensen, JM Pawlotsky, MJ Wattiaux, K Koike, ZG Aprosin, M Garcia Carrasco, PP Montefusco, I Gonzalez-Alvaro, CA Oscott, AJ Czaja, C Vitali, C Vitali, C Vogel, CW Denko, NA Vanselow, KJ Bloch, GV Gregorio, F Konikoff, HM Moutsopoulos, V Loustaud-Ratti, RI Fox, HM Moutsopoulos, KC Siamopoulos, SH Constantopoulos, EW St Clair, HM Moutsopoulos   +42 more
core   +1 more source

Primary Sjögren syndrome: report of a 10 years old girl with local edema and positivity of anti SS-A and anti SS-B autoantibodies

Reumatismo, 2011
Sjögren-Larsson syndrome (SLS) is an autoimmune disease, uncommon in childhood. We report a case of SLS in a 10-year-old girl with a history of tumor, calor and rubor in the back of her toes almost every month, which resolved in 4-5 days without therapy.
V. Gerloni, I. Pontikaki, M. Gattinara, C. Donati, E. Shahi   +4 more
doaj   +1 more source

Small touches to big walks –the impact of rehabilitation on Sjögren-Larsson syndrome: A case report

Journal of Pediatric Rehabilitation Medicine, 2022
Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disorder characterized by the presence of congenital ichthyosis, spasticity, and mental retardation. As with other rare genetic diseases, treatment is mainly symptomatic.
Gunay Yolcu, Leyla Huseynli, Ozge Kenis-Coskun, Evrim Karadag-Saygi   +3 more
doaj   +1 more source

Large contiguous gene deletions in Sjögren-Larsson syndrome. [PDF]

Mol Genet Metab, 2011
Engelstad H, Carney G, S'aulis D, Rise J, Sanger WG, Rudd MK, Richard G, Carr CW, Abdul-Rahman OA, Rizzo WB.   +9 more
europepmc   +2 more sources