Results 41 to 50 of about 4,601 (147)

Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management

BMC Medical Genetics, 2020
Background Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase.
L. Ordieres-Ortega, F. Galeano-Valle, M. Mallén-Pérez, C. Muñoz-Delgado, J. E. Apaza-Chavez, F. J. Menárguez-Palanca, L. A. Alvarez-Sala Walther, P. Demelo-Rodríguez   +7 more
doaj   +1 more source

Identification and biochemical characterization of an acid sphingomyelinase-like protein from the bacterial plant pathogen Ralstonia solanacearum that hydrolyzes ATP to AMP but not sphingomyelin to ceramide. [PDF]

PLoS ONE, 2014
Acid sphingomyelinase (aSMase) is a human enzyme that catalyzes the hydrolysis of sphingomyelin to generate the bioactive lipid ceramide and phosphocholine.
Michael V Airola, Jessica M Tumolo, Justin Snider, Yusuf A Hannun   +3 more
doaj   +1 more source

The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region

Journal of Biochemical and Clinical Genetics, 2023
Acid sphingomyelinase deficiency (ASMD) is an autosomal-recessive progressive multiorgan metabolic disorder due to pathogenic variants in the sphingomyelin phosphodiesterase 1 gene.
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi   +6 more
doaj   +1 more source

Identification and Characterization of Murine Mitochondria-associated Neutral Sphingomyelinase (MA-nSMase), the Mammalian Sphingomyelin Phosphodiesterase 5 [PDF]

Journal of Biological Chemistry, 2010
Sphingolipids play important roles in regulating cellular responses. Although mitochondria contain sphingolipids, direct regulation of their levels in mitochondria or mitochondria-associated membranes is mostly unclear. Neutral SMase (N-SMase) isoforms, which catalyze hydrolysis of sphingomyelin (SM) to ceramide and phosphocholine, have been found in ...
Bill X, Wu, Vinodh, Rajagopalan, Patrick L, Roddy, Christopher J, Clarke, Yusuf A, Hannun   +4 more
openaire   +2 more sources

The Lipid-Modifying Enzyme SMPDL3B Negatively Regulates Innate Immunity

Cell Reports, 2015
Lipid metabolism and receptor-mediated signaling are highly intertwined processes that cooperate to fulfill cellular functions and safeguard cellular homeostasis.
Leonhard X. Heinz, Christoph L. Baumann, Marielle S. Köberlin, Berend Snijder, Riem Gawish, Guanghou Shui, Omar Sharif, Irene M. Aspalter, André C. Müller, Richard K. Kandasamy, Florian P. Breitwieser, Andreas Pichlmair, Manuela Bruckner, Manuele Rebsamen, Stephan Blüml, Thomas Karonitsch, Astrid Fauster, Jacques Colinge, Keiryn L. Bennett, Sylvia Knapp, Markus R. Wenk, Giulio Superti-Furga   +21 more
doaj   +1 more source

Purification of Advanced Therapeutics by Flow‐Through Pseudo‐Affinity Chromatography: Bi‐Specific mABs, Fc Fusion Proteins, and Adeno‐Associated Viruses

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Modern biopharmaceutical manufacturing requires purification platforms capable of processing structurally and functionally diverse products while addressing the challenge of removing persistent and high‐risk host cell proteins (HCPs).
Wenning Chu, Eduardo Barbieri, Arianna Minzoni, Shriarjun Shastry, Jacob P. LeBarre, Qingbo Shu, Taufika Williams, Xuanwen Li, Divya Chandra, Xuankuo Xu, Jerome Bill, David Roush, Joseph Taris, Patrick Gilbert, Andre Kiesewetter, Oliver Rammo, Michael Schulte, Christopher Major, Trina Mouchahoir, Steven Cramer, Cristiana Boi, Ruben G. Carbonell, Abraham Lenhoff, Stefano Menegatti   +23 more
wiley   +1 more source

TcALS knockdown accelerates metamorphosis via insulin signaling in Tribolium castaneum

Insect Science, EarlyView.
RNAi silencing of TcALS accelerates larva‐to‐pupa metamorphosis in Tribolium castaneum. Abstract Insect metamorphosis is an evolutionary adaptation precisely regulated by nutritional and hormonal cues. The red flour beetle Tribolium castaneum, a major stored‐product pest, serves as an excellent model for studying this process.
Min Li, Jie Chen, Zi‐Ye Wang, Fei‐Feng Wang, Lu‐Lu Dong, Jun Pan, Min‐Er Li, Lin Yu, Wen Sang   +8 more
wiley   +1 more source

Exercise‐specific plasma proteomic signatures in racehorses: Candidates for training adaptation and peak load monitoring

Equine Veterinary Journal, Volume 58, Issue 5, Page 1396-1412, September 2026.
Abstract Background Racehorses undergo profound physiological changes with training and competition, but current biomarkers inadequately capture the complex molecular dynamics of exercise. This study aimed to identify novel plasma biomarkers of training adaptation and peak load using high‐throughput proteomics.
Jowita Grzędzicka, Bianka Świderska, Ewa Sitkiewicz, Izabela Dąbrowska, Olga Witkowska‐Piłaszewicz   +4 more
wiley   +1 more source

Ceramides in peripheral arterial plaque lead to endothelial cell dysfunction

JVS - Vascular Science, 2023
Background: Peripheral arterial atheroprogression is increasingly prevalent, and is a risk factor for major limb amputations in individuals with risk factors such as diabetes.
Rodrigo Meade, BS, Yang Chao, MD, PhD, Nikolai Harroun, MD, Chenglong Li, MD, Shahab Hafezi, MD, Fong-Fu Hsu, PhD, Clay F. Semenkovich, MD, Mohamed A. Zayed, MD, PhD, MBA   +7 more
doaj   +1 more source

The proteomic and metabolomic signature of inherited chromosomally integrated HHV‐6 and its role in all‐cause dementia and mortality risk: The UK Biobank study

Alzheimer's &Dementia: Translational Research &Clinical Interventions, Volume 12, Issue 3, July/September 2026.
Abstract OBJECTIVE To examine associations of inherited chromosomally integrated human herpesvirus 6 (iciHHV‐6) with incident dementia and mortality, characterize proteomic and metabolomic correlates of carrier status, and evaluate whether these biomarkers relate to dementia and mortality risk.
May A. Beydoun, Minkyo Song, Choa Yun, Nicole Noren Hooten, Jordan Weiss, Hind A. Beydoun, Michael R. Duggan, Keenan A. Walker, Lenore J. Launer, Michele K. Evans, Alan B. Zonderman   +10 more
wiley   +1 more source