Results 101 to 110 of about 6,608 (209)

Loss of ceramide synthase 3 causes lethal skin barrier disruption [PDF]

, 2017
The stratum corneum as the outermost epidermal layer protects against exsiccation and infection. Both the underlying cornified envelope (CE) and the intercellular lipid matrix contribute essentially to these two main protective barriers. Epidermis-unique
Bayerle, Aline, Dalpke, Alexander, Epstein, Sharon, Gorgas, Karin, Gröne, Hermann-Josef, Imgrund, Silke, Jennemann, Richard, Kirsch, Joachim, Nickel, Walter, Rabionet, Mariona, Riezman, Howard, Rothermel, Ulrike, Sandhoff, Roger, van der Hoeven, Franciscus, Willecke, Klaus   +14 more
core  

Inhibition of astrocytic adenosine receptor A2A attenuates microglial activation in a mouse model of Sandhoff disease

Neurobiology of Disease, 2018
Astrocyte-microglia communication influences the onset and progression of central nervous system (CNS) disorders. In this study, we determined how chronic inflammation by activated astrocytes affected and regulated CNS functions in Sandhoff disease (SD),
Yasuhiro Ogawa, Eiri Furusawa, Takahiro Saitoh, Hiroki Sugimoto, Takumi Omori, Shinya Shimizu, Hisatsugu Kondo, Mika Yamazaki, Hitoshi Sakuraba, Kazuhiko Oishi   +9 more
doaj   +1 more source

Lipid profile of Xylella fastidiosa Subsp. pauca associated with the olive quick decline syndrome [PDF]

, 2018
Lipids, components of the plasma and intracellular membranes as well as of droplets, provide different biological functions related to energy, carbon storage, and stress responses.
Manuel Salustri, Massimo Reverberi, Nicoletta Pucci, Simone Lucchesi, Stefania Loreti, Valeria Scala, Vanessa Modesti   +6 more
core   +2 more sources

Characterization of Human Recombinant β1,4-GalNAc-Transferase B4GALNT1 and Inhibition by Selected Compounds

Molecules
Gangliosides are essential for membrane functions, cell recognition, and maintenance of the nervous system. GM2 gangliosidosis is a group of rare genetic lysosomal storage diseases that includes Tay-Sachs disease (TSD), Sandhoff disease (SD), and AB ...
Iram Abidi, Alexander N. Kocev, Jonathan L. Babulic, Chantelle J. Capicciotti, Jagdeep Walia, Inka Brockhausen   +5 more
doaj   +1 more source

Life-Limiting Peripheral Organ Dysfunction in Feline Sandhoff Disease Emerges after Effective CNS Gene Therapy. [PDF]

Ann Neurol, 2023
Johnson AK, McCurdy VJ, Gray-Edwards HL, Maguire AS, Cochran JN, Gross AL, Skinner HE, Randle AN, Shirley JL, Brunson BL, Bradbury AM, Leroy SG, Hwang M, Rockwell HE, Cox NR, Baker HJ, Seyfried TN, Sena-Esteves M, Martin DR.   +18 more
europepmc   +1 more source

Sandhoff Disease [PDF]

, 2020
openaire   +3 more sources

Prenatal Diagnosis of Sandhoff Disease by Enzyme Analysis of Chorionic Villus Sample

Gynecology Obstetrics & Reproductive Medicine, 2008
OBJECTIVE AND STUDY DESIGN: The prenatal diagnosis of Sandhoff disease (SD) was performed in 14 fetuses of families by the analysis of chorionic villus sample obtained at 11-14 weeks of gestation. The diagnosis was based on the absence or near-absence of
Asuman Özkara, Ebru Dikensoy, Tülay Özlü, Meral Topçu, Nur Çakar, Mehmet Sinan Beksaç   +5 more
doaj  

A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China. [PDF]

Medicine (Baltimore), 2023
Xie H, Lin S, Chen Y, Wang W, Qi Y, Li J, Chen Q, Feng X.   +7 more
europepmc   +1 more source

Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, Whole HEXB Gene Deletion, and Coexisting MYH7 Pathogenic Variant. [PDF]

Neurol Genet, 2022
Beecher G, Liewluck T, Milone M.
europepmc   +1 more source

Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study

Orphanet Journal of Rare Diseases
Background GM1 and GM2 (Tay–Sachs and Sandhoff diseases) gangliosidoses are rare, autosomal recessive, potentially life-threatening, disabling disorders characterized by progressive neurodegeneration, with no disease-modifying treatment. This qualitative
Maria Belen Rodriguez, Ruth Pulikottil-Jacob, Karli Heuer, Nancy Gabriela Perez, Christine Waggoner, Diana Jussila, Chad Gwaltney, Robert Krupnick, Daisy Ng-Mak   +8 more
doaj   +1 more source