Results 71 to 80 of about 25,991 (218)

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum [PDF]

, 2005
In contrast to the common and genetically complex senile form of Alzheimer's disease (AD), the molecular genetic dissection of inherited presenile dementias has given important mechanistic insights into the pathogenesis of degenerative brain disease ...
Cruts, Marc, Dermaut, Bart, Kumar-Singh, Samir, Rademakers, Rosa, Theuns, Jessie, Van Broeckhoven, Christine   +5 more
core   +1 more source

Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease

Frontiers in Physiology, 2017
Lysosomal storage disorders (LSD) are characterized by the accumulation of diverse lipid species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick type C (NPC) are progressive LSD caused by loss of function of distinct ...
Sandra Torres, Sandra Torres, Elisa Balboa, Silvana Zanlungo, Carlos Enrich, Carmen Garcia-Ruiz, Carmen Garcia-Ruiz, Carmen Garcia-Ruiz, Jose C. Fernandez-Checa, Jose C. Fernandez-Checa, Jose C. Fernandez-Checa   +10 more
doaj   +1 more source

Bibliometric Analysis of Cubebenes and Related Sesquiterpenes: Natural Occurrence, Biosynthesis, Pharmacological Activities, and In‐Silico‐Based Future Therapeutic Potential

eFood, Volume 7, Issue 3, June 2026.
Cubebene‐related sesquiterpenes, found across diverse biological sources, exhibit promising pharmacological activities, including anti‐inflammatory, neuroprotective, and anticancer effects. This review highlights their molecular diversity, ADME profiles, and predicted multitarget interactions, underscoring their therapeutic relevance and potential in ...
Khadija Boualam, Ahmet B. Ortaakarsu, Sohaib Khatib, Mohamed A. Farag, Mansour Sobeh   +4 more
wiley   +1 more source

Knowledge-based gene expression classification via matrix factorization [PDF]

, 2008
Motivation: Modern machine learning methods based on matrix decomposition techniques, like independent component analysis (ICA) or non-negative matrix factorization (NMF), provide new and efficient analysis tools which are currently explored to analyze ...
A. M. Tomé, Affymetrix, Allison, Baldi, Barnhill, Bolstad, Breiman, Cardoso, Cardoso, Chen, D. Lutter, Diaz-Uriarte, Diaz-Uriarte, Dougherty, Dougherty, Dudoit, E. W. Lang, F. J. Theis, G. Schmitz, Galton, Galton, Golub, Guyon, Hochreiter, Irrizarry, Lee, Li, Liebermeister, Liu, Lutter, M. Stetter, Mangasarian, P. Gómez Vilda, P. Knollmüller, Pearson, Quackenbush, R. Schachtner, Saidi, Schachtner, Schachtner, Schölkopf, Simon, Spang, Talloen, Troyanskaya, Tusher, Wu, Wu   +47 more
core   +3 more sources

Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case report

Journal of Medical Case Reports, 2018
Background Niemann–Pick disease is caused by reduced level of the lysosomal enzyme acid sphingomyelinase. Children can survive between 2 and 12 years based on the disease type. Two main types are well known: type A and B.
Abedelmajeed Nasereddin, Suheir Ereqat
doaj   +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

Alterations of intestinal lipoprotein metabolism in diabetes mellitus and metabolic syndrome [PDF]

, 2015
Diabetes and metabolic syndrome are associated with abnormal postprandial lipoprotein metabolism, with a significant delay in the clearance of many lipid parameters, including triglycerides and chylomicrons.
ARCA, Marcello
core   +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

Niemann-Pick type C disease: The atypical sphingolipidosis [PDF]

Advances in Biological Regulation, 2018
Niemann-Pick type C (NPC) disease is a lysosomal storage disorder resulting from mutations in either the NPC1 (95%) or NPC2 (5%) genes. NPC typically presents in childhood with visceral lipid accumulation and complex progressive neurodegeneration characterized by cerebellar ataxia, dysphagia, and dementia, resulting in a shortened lifespan.
Jason, Newton, Sheldon, Milstien, Sarah, Spiegel   +2 more
openaire   +2 more sources