Results 71 to 80 of about 3,936 (170)

Studying fatty aldehyde metabolism in living cells with pyrene-labeled compounds

Journal of Lipid Research, 2012
The lack of fatty aldehyde dehydrogenase function in Sjögren Larsson Syndrome (SLS) patient cells not only impairs the conversion of fatty aldehydes into their corresponding fatty acid but also has an effect on connected pathways. Alteration of the lipid
Markus A. Keller, Katrin Watschinger, Karsten Lange, Georg Golderer, Gabriele Werner-Felmayer, Albin Hermetter, Ronald J.A. Wanders, Ernst R. Werner   +7 more
doaj   +1 more source

Sjogren-Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort

, 2012
Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by ichthyosis, spastic di- or tetraplegia and mental retardation due a defect of the fatty aldehyde dehydrogenase (FALDH), related to mutations in the ALDH3A2 gene.
Geneviève Giraud, Christine Francannet, Wanders, Ronald J. A., Afenjar, Alexandra, Mélanie Rigal, Catherine Vaurs-Barrière, Alexandra Afenjar, Odile Boespflug-Tanguy, Giraud, Geneviève, Imen Dorboz, Vaurs-Barrière, Catherine, Eymard-Pierre, Eléonore, Rigal, Mélanie, Combes, Patricia, Catherine Sarret, Boespflug-Tanguy, Odile, Dorboz, Imen, Francannet, Christine, Patricia Combes, Sarret, Catherine, Ronald J.A. Wanders, Eléonore Eymard-Pierre   +21 more
core   +1 more source

An interesting case of neurocutaneous syndrome

, 2023
Neuroichthyosis is a group of rare genetically determined disease with cutaneous and neurological manifestations due to abnormalities in any of the following: lipid metabolism, glycoprotein synthesis, or intracellular vesicle trafficking. There are about
Ravikumar Veeramani, M. Ramachandran, Veeramani, Ravikumar, Shraddha K. Kedlaya, Palanisamy, Lenin Sankar, Ramachandran, M., Lenin Sankar Palanisamy, Kedlaya, Shraddha K.   +7 more
core   +1 more source

Role of epigenetics and alterations in RNA metabolism in leukodystrophies

WIREs RNA, Volume 15, Issue 3, May/June 2024.
Leukodystrophies are rare brain disorders affecting white matter, with a clinical diversity still to be explained. Beyond genetics, epigenetic factors like histone modifications, DNA methylation, and non‐coding RNA dysregulation, as well as aberrant RNA maturation, are emerging as crucial contributors to these disorders.
Federica Rey, Letizia Esposito, Erika Maghraby, Alessia Mauri, Clarissa Berardo, Eleonora Bonaventura, Davide Tonduti, Stephana Carelli, Cristina Cereda   +8 more
wiley   +1 more source

Sjogren-Larsson syndrome - A case report

, 1993
In this study, a newborn infant with Sjogren-Larsson syndrome is presented with clinical, EEG and brain computed tomography findings, and congenital ichthyosiform dermatoses which progress with neurologic involvement, have been reviewed in differential ...
Kirimi E., Karaca M., Yazicioglu M., Utku U.   +3 more
core  

Síndrome de sjogren, uma doença auto-imune rara na infância. [PDF]

, 2007
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Beduschi Filho, Sérgio
core  

MR spectroscopy and diffusion tensor imaging of the brain in Sjogren-Larsson syndrome

, 2009
Diffusion tensor imaging (DTI) is reported for the first time in a patient with Sjogren-Larsson syndrome, an autosomal recessive neurocutaneous disorder.
Lunsing, R. J., Potze, J. H., Oudkerk, M., van Spronsen, F. J., Oudkerk, M.; id_orcid, de Groot, J. C., Boon, M., Sijens, P. E., Westerlaan, H. E., de Groot, J. C.; id_orcid   +9 more
core   +1 more source

Presentation of Sjogren Syndrome as Nodular Pulmonary Amyloidosis

, 2022
Sjogren syndrome is an autoimmune disorder that leads to dryness in the eyes and mouth. Nodular pulmonary amyloidosis is a localized amyloid deposition pathology commonly seen with monoclonal lymphoproliferative disorders.
Malik, Devin, Patel, Parth M, Singh, Harjinder, Patel, Parth, Zebda, Hazem, Ramanan, Sruthi   +5 more
core   +1 more source

Sjogren′s Syndrome: A Review

, 2011
Sjogren′s syndrome, also known as "Mikulicz disease" or "Sicca syndrome" is a systemic autoimmune disease in which immune cells attack and destroy the exocrine glands that produce tears and saliva.
Rani Somani, M K Sunil, Dilip Kumar, Jaskirat Khaira   +3 more
core   +1 more source

Defective metabolism of leukotriene B4 in the Sjogren-Larsson syndrome.

, 2001
Item does not contain fulltextThe Sjogren-Larsson Syndrome (SLS) is a neurocutaneous disorder, caused by deficient activity of the microsomal enzyme fatty aldehyde dehydrogenase (FALDH).
de Jong, J. G., Willemsen, M.A.A.P., Jong, J.G.N. de, Wanders, R.J., Rotteveel, J. J., Hoffmann, G. F., Ijlst, L., Willemsen, M. A., Hoffmann, G.F., Rotteveel, J.J., Wanders, R. J., Mayatepek, E.   +11 more
core   +1 more source