Results 61 to 70 of about 2,350,820 (217)

Ciliary Membrane Lipid Homeostasis in Health and Disease

Advanced Science, Volume 13, Issue 58, 19 October 2026.
This review systematically delineates the distinct lipid landscapes of ciliary membranes, including the spatial organization of phosphoinositides, cholesterol, and sphingolipids. It elucidates how these lipids orchestrate ciliogenesis, signal transduction, and membrane dynamics in cilia beating, and highlights how their dysregulation drives ...
Zhenzhou Huang, Yuan‐yuan Liu, Hanqi Sun, Peiwei Liu   +3 more
wiley   +1 more source

Unique molecular signature in mucolipidosis type IV microglia

Journal of Neuroinflammation, 2019
Background Lysosomal storage diseases (LSD) are a large family of inherited disorders characterized by abnormal endolysosomal accumulation of cellular material due to catabolic enzyme and transporter deficiencies.
Antony Cougnoux, Rebecca A. Drummond, Mason Fellmeth, Fatemeh Navid, Amanda L. Collar, James Iben, Ashok B. Kulkarni, James Pickel, Raphael Schiffmann, Christopher A. Wassif, Niamh X. Cawley, Michail S. Lionakis, Forbes D. Porter   +12 more
doaj   +1 more source

Progressive Cognitive Decline and Pyramidal Signs in a Patient With a Novel Homozygous c.395A>T; p.Lys132Met Mutation in CHCHD2

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Biallelic CHCHD2 variants are rare. We report a consanguineous man with a novel homozygous CHCHD2 c.395A>T (p.Lys132Met) variant who developed progressive cognitive decline, apraxia, oculomotor impairment, and pyramidal signs without parkinsonism.
Mehri Salari, Arash Soltani, Masoud Etemadifar, Kamran Rezaei   +3 more
wiley   +1 more source

Prevalence of antibodies to ganglioside and Hep 2 in Gaucher, Niemann – Pick type C and Sanfilippo diseases

Molecular Genetics and Metabolism Reports, 2019
Lysosomal Storage Diseases (LSDs) are rare genetic diseases, the majority of which are caused by specific lysosomal enzyme deficiencies and all are characterized by malfunctioning lysosomes.
Evangelia Dimitriou, Evangelia Paschali, Maria Kanariou, Helen Michelakakis   +3 more
doaj   +1 more source

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)

Prenatal Diagnosis, Volume 46, Issue 11, Page 1703-1710, October 2026.
ABSTRACT Objective Expert prenatal focused gene‐disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing. Methods An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe ...
Stephanie N. Galloway, Jessica L. Giordano, Carrie Shawber, Natalie Chandler, Lauren Westerfield, Prenatal GCEP Panel members, Ronald J. Wapner, Wendy Chung, Ignatia B. Van den Veyver, Shagun Aggarwal, Caitlin Baptiste, Brenna Boyd, Amanda Buchanan, Alicia Byrne, Imen Chakchouk, David Chitayat, Lyn Chitty, Pinal Dalwadi, Avinash Dharmadhikari, Lilian Downie, Stephanie Dukhovny, Mythily Ganapathi, Kelly Gilmore, Elena Greenfeld, Lylach Haizler‐Cohen, Vaidehi Jobanputra, Gabrielle Litteken, Hannah Perrin, Julie Ratliff, Rebecca Reimers, Erin Riggs, Teresa Sparks, Samantha Stover, Amanda Thomas‐Wilson, Leandra Tolusso, Neeta Vora, Tsegaselassie Workalemahu, Roni Zemet‐Lazar   +37 more
wiley   +1 more source

Applying a Pareto‐Based Efficiency Frontier to Inform Value‐Based Pricing for Gaucher Disease Therapies in Brazil

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 10, October 2026.
ABSTRACT Purpose Gaucher disease (GD) requires lifelong high‐cost treatment within the Brazilian Unified Health System (SUS). In Brazil, treatment eligibility and monitoring are defined by Clinical Protocol and Therapeutic Guidelines (PCDT), while pharmaceutical prices are regulated by the Drug Market Regulation Chamber (CMED).
Marcus Carvalho Borin, Ludmila Peres Gargano, Francisco de Assis Acurcio, Juliana Álvares‐Teodoro, Augusto Afonso Guerra Junior   +4 more
wiley   +1 more source

Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients

Frontiers in Immunology, 2019
The lysosome has a key role in the presentation of lipid antigens by CD1 molecules. While defects in lipid antigen presentation and in invariant Natural Killer T (iNKT) cell response were detected in several mouse models of lysosomal storage diseases ...
Catia S. Pereira, Catia S. Pereira, Begoña Pérez-Cabezas, Begoña Pérez-Cabezas, Helena Ribeiro, Helena Ribeiro, Helena Ribeiro, M. Luz Maia, M. Teresa Cardoso, Ana F. Dias, Olga Azevedo, M. Fatima Ferreira, Paula Garcia, Esmeralda Rodrigues, Paulo Castro-Chaves, Esmeralda Martins, Patricio Aguiar, Mercè Pineda, Yasmina Amraoui, Simona Fecarotta, Elisa Leão-Teles, Shenglou Deng, Paul B. Savage, M. Fatima Macedo, M. Fatima Macedo, M. Fatima Macedo   +25 more
doaj   +1 more source

Genetic Diversity and Structure Analysis of Wild Oysters (Crassostrea virginica) Within and Between River Systems Reveals Spatial Genetic Structure and Salinity‐Adaptive Variation Across the Canadian Maritimes

Evolutionary Applications, Volume 19, Issue 10, October 2026.
ABSTRACT In the Canadian Maritimes, the eastern oyster (Crassostrea virginica) industry has been shaped by population‐scale events, including ~90% reductions of natural beds from Malpeque disease. For many years, Maritime oyster populations were considered genetically homogenous due to large‐scale transplants to rehabilitate depleted beds; however ...
Stephanie Hall, Denise Méthé, Royce Steeves, Mark LaFlamme, Curtis Dinn, Rémi Sonier, Jeff C. Clements   +6 more
wiley   +1 more source

Malaria mosquito antimicrobial defence requires immunity and detoxification gene regulation by Lola

Insect Molecular Biology, Volume 35, Issue 5, Page 576-593, October 2026.
Malaria mosquito antimicrobial defence requires upregulation of lola. Attenuation of lola in the midgut of Anopheles albimanus mosquitoes inhibits the upregulation of immunity genes induced by challenge. Putative target genes of the Lola transcription factor were revealed by lola attenuation, including Cecropin‐C, Draper, PPAF2, Clip‐domain serine ...
Heidi Espadas‐Álvarez, Verónica Valverde‐Garduño   +1 more
wiley   +1 more source

A case of Niemann – Pick disease type C

Неврология, нейропсихиатрия, психосоматика, 2013
The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC), a rare inherited orphan disease, belonging to a group of lipid storage diseases.
Sergei Anatolyevich Klyushnikov, O R Smirnov, E Yu Zakharova   +2 more
doaj   +1 more source