Results 81 to 90 of about 6,691 (192)

Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis [PDF]

, 2017
Mutations in the co- chaperone protein, CSPα, cause an autosomal dominant, adult-neuronal ceroid lipofuscinosis (AD-ANCL). The current understanding of CSPα function exclusively at the synapse fails to explain the autophagy-lysosome pathway (ALP ...
Benitez, Bruno A, Sands, Mark S
core   +2 more sources

Genome scan reveals several loci associated with torus palatinus

Orthodontics &Craniofacial Research, Volume 28, Issue 1, Page 159-165, February 2025.
Abstract Objective Torus Palatinus (TP) is a common trait with an unclear aetiology. Although prior studies suggest a hereditary component, the genetic factors that influence TP risk remain unknown. The purpose of this study is to identify genetic variants associated with TP.
Myoung Keun Lee, Ahmed M. El Sergani, Noah Herrick, Rebecca M. Green, Carmencita Padilla, Carmen J. Buxó, Ross E. Long, Consuelo Valencia‐Ramirez, Claudia P. Restrepo Muñeton, Lina M. Moreno Uribe, Wasiu L. Adeyemo, Azeez Butali, Mary L. Marazita, John R. Shaffer, Seth M. Weinberg   +14 more
wiley   +1 more source

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  

Fingolimod for the treatment of neurological diseases—state of play and future perspectives [PDF]

, 2014
Sphingolipids are a fascinating class of signaling molecules derived from the membrane lipid sphingomyelin. They show abundant expression in the brain.
Rajkumar Vutukuri, Robert Brunkhorst, Waltraud Pfeilschifter   +2 more
core   +2 more sources

Lysosphingolipid Quantitation in Plasma and Dried‐Blood Spots Using Targeted High‐Resolution Mass Spectrometry

Journal of Clinical Laboratory Analysis, Volume 39, Issue 1, January 2025.
Sphingolipidoses is a group of rare inherited lysosomal diseases that require an early and accurate diagnosis for effective treatment and patient management. A high‐resolution mass spectrometry method coupled with liquid chromatography has beendeveloped to analyze lysosphingolipids in plasma and dried blood spots.
Franklin Ducatez, Wladimir Mauhin, Jules Ottaviani, Thomas Plichet, Carine Pilon, Olivier Lidove, Fréderic Barbey, Régine Perrichot, Sabrina Vergnaud, Marc G. Berger, Juliette Berger, Nadia Belmatoug, Yann Nadjar, Foudil Lamari, Esther Noel, Stéphane Marret, Soumeya Bekri, Abdellah Tebani   +17 more
wiley   +1 more source

Unifying biology of neurodegeneration in lysosomal storage diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract There are currently at least 70 characterised lysosomal storage diseases (LSD) resultant from inherited single‐gene defects. Of these, at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. Substrate accumulation and dysfunctional neuronal lysosomes are common denominator, but how variants in 30 ...
Anna M. Ludlaim, Simon N. Waddington, Tristan R. McKay   +2 more
wiley   +1 more source

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia

Heliyon, 2020
Lysosomal storage diseases (LSDs) are a group of about 50 inborn errors of metabolism characterized by the lysosomal accumulation of partially or non-degraded molecules due to mutations in proteins involved in the degradation of macromolecules, transport,
María Alejandra Puentes-Tellez, Paula Andrea Lerma-Barbosa, Rafael Guillermo Garzón-Jaramillo, Diego A. Suarez, Angela J. Espejo-Mojica, Johana M. Guevara, Olga Yaneth Echeverri, Daniela Solano-Galarza, Alfredo Uribe-Ardila, Carlos J. Alméciga-Díaz   +9 more
doaj   +1 more source

A review of sphingolipids from marine sources and their analytical method, metabolic process, and essential roles in human health

Food Frontiers, Volume 5, Issue 5, Page 2015-2042, September 2024.
Sphingolipids from marine sources are abundant, diverse, and have good physiological functions, with great potential for maintaining human health. Dietary supplementation with marine sphingolipids influences the occurrence and progression of a wide range of diseases.
Xinwen Wang, Mantong Zhao, Guanghua Xia, Haohao Shi, Chuan Li, Xuanri Shen, Kanyasiri Rakariyatham, Saijun He, Zhongyuan Liu, Dayong Zhou   +9 more
wiley   +1 more source

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

BMC Medical Genetics, 2019
Background Neurological disorders are a common cause of morbidity and mortality within Pakistani populations. It is one of the most important challenges in healthcare, with significant life-long socio-economic burden. Methods We investigated the cause of
Shazia Khan, Lettie E. Rawlins, Gaurav V. Harlalka, Muhammad Umair, Asmat Ullah, Shaheen Shahzad, Muhammad Javed, Emma L. Baple, Andrew H. Crosby, Wasim Ahmad, Asma Gul   +10 more
doaj   +1 more source

Impaired neural differentiation of induced pluripotent stem cells generated from a mouse model of Sandhoff disease.

PLoS ONE, 2013
Sandhoff disease (SD) is a glycosphingolipid storage disease that arises from mutations in the Hexb gene and the resultant deficiency in β-hexosaminidase activity.
Yasuhiro Ogawa, Makoto Tanaka, Miho Tanabe, Toshihiro Suzuki, Tadayasu Togawa, Tomoko Fukushige, Takuro Kanekura, Hitoshi Sakuraba, Kazuhiko Oishi   +8 more
doaj   +1 more source