Results 91 to 100 of about 30,962 (231)

Algorithms in Allergy: Molecular Allergology in the Context of Animal Allergy

Allergy, EarlyView.
Christiane Hilger, Bulent E. Sekerel, Marianne van Hage, Wolfgang Hemmer, Jon R. Konradsen   +4 more
wiley   +1 more source

A Cross‐Disease Microglial Transcriptional Program Characterizes Neurodegeneration and Highlights SPP1 as a Biomarker

Glia, Volume 74, Issue 6, June 2026.
Distinct microglial subpopulations are depicted, highlighting variations in gene expression and functional roles in response to specific disease conditions and the complexity of microglial activation and differentiation in neurodegeneration. ABSTRACT Microglial cells are key players in maintaining brain homeostasis and responding to pathological ...
Alessandro Palma, Roberta Stefanelli, Francesco Trenta, Chiara Projetti, Greta Massa, Sonia Canterini, Maria Teresa Fiorenza   +6 more
wiley   +1 more source

The Recycling Endosomal (Na+, K+)/H+ Exchanger NHE6/SLC9A6 Facilitates Signal Transduction by Shuttling Cyclin‐Dependent Kinase 5 to the Plasma Membrane

Acta Physiologica, Volume 242, Issue 6, June 2026.
ABSTRACT Aim The alkali cation/proton exchanger NHE6/SLC9A6 regulates luminal pH homeostasis and trafficking of recycling endosomes in most tissues, especially neurons. Loss‐of‐function mutations in NHE6 cause Christianson Syndrome, an X‐linked neurodevelopmental and neurodegenerative disorder; however, the underlying molecular and cellular mechanisms ...
Rebecca Flessner, Alina Ilie, Léo Han, Annie Boucher, Rebecca Anne McKinney, Reza Sharif‐Naeini, John Orlowski   +6 more
wiley   +1 more source

Golgi localization and phosphorylation of oxysterol binding protein in Niemann-Pick C and U18666A-treated cells

Journal of Lipid Research, 2001
Oxysterol binding protein (OSBP) translocation between Golgi and vesicular/cytoplasmic compartments is affected by conditions that alter cholesterol and sphingomyelin homeostasis, indicating a role in lipid and sterol regulation in this organelle.
Abbas Mohammadi, Ryan J. Perry, Margo K. Storey, Harold W. Cook, David M. Byers, Neale D. Ridgway   +5 more
doaj   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Niemann‐Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder that affects approximately 1 in 100 000 live births. It is primarily caused by mutations in the NPC1 gene, which disrupts intracellular cholesterol transport and leads to lipid accumulation in late endosomes and lysosomes.
Sanaa Abdelmalek Mahmoud, AhmedElmontaser Mergani, Maren von Köckritz‐Blickwede, Hassan Y. Naim   +3 more
wiley   +1 more source

Cognitive impairment profile in adult patients with Niemann pick type C disease

Orphanet Journal of Rare Diseases, 2017
Background Cognitive impairment is one of the core symptoms of Niemann Pick type C (NPC) disease, but few data concerning the neuropsychological profile of NPC patients are available.
Camille Heitz, Stéphane Epelbaum, Yann Nadjar   +2 more
doaj   +1 more source

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Acid sphingomyelinase deficiency (ASMD) is a rare debilitating lysosomal storage disease resulting in multisystemic disease manifestations, significant disease burden, and early mortality for some individuals. Enzyme replacement therapy (ERT) with olipudase alfa (Xenpozyme) is the first disease‐specific treatment indicated for noncentral ...
Melissa P. Wasserstein, Carla E. Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Robin Lachmann, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Beth L. Thurberg, Jesus Villarrubia, Nicole M. Armstrong, Shashi Bhushan, Yong Kim, Monica Kumar   +20 more
wiley   +1 more source

The metabolism of APP protein in lysosomal storage disorders [PDF]

, 2009
Nedavna istraživanja su pokazala da povišena razina kolesterola može mijenjati cijepanje prekursora proteina amiloid-beta (APP) i utjecati na nakupljanje peptida amiloid-beta (Aβ), glavne patološke značajke Alzheimerove bolesti (AB).
Posavec, Melanija
core   +1 more source

Short‐Term Oral Spermidine Supplementation Modifies Aspects of Neurodegenerative Disease in Flies and Mice With MPS III

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Mucopolysaccharidosis type III (MPS III) is a group of autosomal recessive neurodegenerative lysosomal storage disorders that causes progressive cognitive and physical impairment, predominantly in child/early adulthood. The median age of death is 17 years as there is no safe, effective treatment approved.
Helen Beard, Sonia Dayan, Karissa Barthelson, Laura Hewson, Louise V. O'Keefe, Kim M. Hemsley   +5 more
wiley   +1 more source