Results 71 to 80 of about 3,930 (214)

Acid Sphingomyelinase Regulates the Localization and Trafficking of Palmitoylated Proteins [PDF]

, 2019
In human, loss of Acid Sphingomeylinase (ASM/SMPD1) causes Niemann-Pick Disease, type A. ASM hydrolyzes sphingomyelins to produce ceramides but protein targets of ASM remain largely unclear. ...
Kim, Yongsoon, Lee, Chia-Fang, Li, Wenjing, Sun, Hong, Xiong, Xiahui, Yu, Jiekai, Zhang, Hul, Zhu, Linyu   +7 more
core   +2 more sources

Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia

Cell & Bioscience, 2022
Background Spastic ataxias (SAs) encompass a group of rare and severe neurodegenerative diseases, characterized by an overlap between ataxia and spastic paraplegia clinical features. They have been associated with pathogenic variants in a number of genes,
Andrea C. Kakouri, Christina Votsi, Anastasis Oulas, Paschalis Nicolaou, Massimo Aureli, Giulia Lunghi, Maura Samarani, Giacomo M. Compagnoni, Sabrina Salani, Alessio Di Fonzo, Thalis Christophides, George A. Tanteles, Eleni Zamba-Papanicolaou, Marios Pantzaris, George M. Spyrou, Kyproula Christodoulou   +15 more
doaj   +1 more source

Gaucher disease: A 10 year old girl with anemia and huge spelenomegaly (a case report)

, 2008
Gaucher's disease is a rare lipid storage disorder, affecting one in 40,000-200,000 people and results from a genetic deficiency of the enzyme glucocerebrosidase (glucosylceramidase).
Davarian, A., Mirbehbahani, N.B.
core   +1 more source

Uncovering the Complexity of Synucleinopathies: An Ongoing Tale Between Proteins and Lipids

Movement Disorders, EarlyView.
Abstract Neurodegenerative diseases are pathological states characterized by progressive alterations in brain homeostasis during aging. Synucleinopathies, including Parkinson's disease and dementia with Lewy bodies, are defined neuropathologically by the accumulation of inclusions known as Lewy bodies and Lewy neurites.
Manuel Flores‐León, Tiago F. Outeiro
wiley   +1 more source

A novel mutation in the GBA2 gene in a Japanese patient with SPG46: A case report

eNeurologicalSci, 2020
Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by pyramidal weakness and spasticity of the lower limbs. SPG46, one of autosomal recessive HSP, is clinically characterized by spasticity and pyramidal weakness of the ...
Keiko Nakamura-Shindo, Kenjiro Ono, Kishin Koh, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama, Masahito Yamada   +6 more
doaj   +1 more source

Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family

Genes and Diseases, 2021
The nonlysosomal glucosylceramidase β2 (GBA2) gene encode an enzyme that catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Mutations in the GBA2 gene have been reported to cause hereditary spastic paraplegia, autosomal recessive ...
Hussein Algahtani, Bader Shirah, Ikram Ullah, Mohammad H. Al-Qahtani, Angham Abdulrahman Abdulkareem, Muhammad Imran Naseer   +5 more
doaj   +1 more source

Dual Expression of the Salmonella Effector SrfJ in Mammalian Cells and Plants [PDF]

, 2017
SrfJ is an effector of the Salmonella pathogenicity island 2-encoded type III secretion system. Salmonella enterica serovar Typhimurium expresses srfJ under two disparate sets of conditions: media with low Mg2+ and low pH, imitating intravacuolar ...
Aguilera Herce, Julia, Ramos Morales, Francisco, Schikora, Adam, Zarkani, Azhar A.   +3 more
core   +2 more sources

Proteomic analysis of the zone of degeneration at the mitosis–meiosis transition stage in wild‐caught male catshark (Scyliorhinus canicula), correlated with an unusually high‐water temperature in the English Channel

Journal of Fish Biology, EarlyView.
Abstract In the context of current global change, variations in water temperature are one of the environmental conditions with serious consequences for marine life, including reproductive processes. In the small spotted catshark Scyliorhinus canicula, spermatogenesis occurs in spermatocysts composed of synchronously developing germ cells associated ...
Fabian Jeanne, Stanislas Pilet, Sean Heighton, Benoît Bernay, Pascal Sourdaine   +4 more
wiley   +1 more source

Sphingolipids as emerging mediators in retina degeneration [PDF]

, 2019
The sphingolipids ceramide (Cer), sphingosine-1-phosphate (S1P), sphingosine (Sph), and ceramide-1-phosphate (C1P) are key signaling molecules that regulate major cellular functions.
Prado Spalm, Facundo Heber, Rotstein, Nora Patricia, Simon, Maria Victoria, Vera, Marcela Sonia   +3 more
core   +1 more source

Distinguishing the differences in β-glycosylceramidase folds, dynamics, and actions informs therapeutic uses

Journal of Lipid Research, 2018
Glycosyl hydrolases (GHs) are carbohydrate-active enzymes that hydrolyze a specific β-glycosidic bond in glycoconjugate substrates; β-glucosidases degrade glucosylceramide, a ubiquitous glycosphingolipid.
Fredj Ben Bdira, Marta Artola, Herman S. Overkleeft, Marcellus Ubbink, Johannes M.F.G. Aerts   +4 more
doaj   +1 more source