Results 11 to 20 of about 1,067 (90)

GBA Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes

Movement Disorders, Volume 35, Issue 12, Page 2201-2210, December 2020., 2020
Abstract Background Alterations in the GBA gene (NM_000157.3) are the most important genetic risk factor for Parkinson's disease (PD). Biallelic GBA mutations cause the lysosomal storage disorder Gaucher's disease. The GBA variants p.E365K and p.T408M are associated with PD but not with Gaucher's disease.
Andrea Greuel, Jean‐Pierre Trezzi, Enrico Glaab, Marina C. Ruppert, Franziska Maier, Christian Jäger, Zdenka Hodak, Katja Lohmann, Yilong Ma, David Eidelberg, Lars Timmermann, Karsten Hiller, Marc Tittgemeyer, Alexander Drzezga, Nico Diederich, Carsten Eggers   +15 more
wiley   +1 more source

Genetic and molecular biology of bladder cancer among Iranian patients

Molecular Genetics &Genomic Medicine, Volume 8, Issue 6, June 2020., 2020
In present review we have summarized all of the reported genes among Iranian BC patients until now which were significantly associated with tumorigenesis. We categorized all of the reported genes based on their cell and molecular functions to clarify the genetic and molecular biology of BC among Iranian population.
Majid Mojarrad, Meysam Moghbeli
wiley   +1 more source

Identification of a five‐mRNA signature as a novel potential prognostic biomarker in pediatric Wilms tumor

Molecular Genetics &Genomic Medicine, Volume 8, Issue 1, January 2020., 2020
The five‐mRNA signature can predict the prognosis of patients with pediatric WT. It has significant implication in the understanding of therapeutic targets for pediatric WT patients. However, further study is needed to validate this five‐mRNA signature and uncover more novel diagnostic or prognostic mRNAs candidates in pediatric WT patients.
Xiao‐Dan Lin, Yu‐Peng Wu, Shao‐Hao Chen, Xiong‐Lin Sun, Zhi‐Bin Ke, Dong‐Ning Chen, Xiao‐Dong Li, Yun‐Zhi Lin, Yong Wei, Qing‐Shui Zheng, Ning Xu, Xue‐Yi Xue   +11 more
wiley   +1 more source

Recent Advances in the Diagnosis and Treatment of Niemann‐Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician

International Journal of Pediatrics, Volume 2015, Issue 1, 2015., 2015
Niemann‐Pick disease (NP‐C) is a lysosomal storage disease in which impaired intracellular lipid transport leads to accumulation of cholesterol and glycosphingolipids in various neurovisceral tissues. It is an autosomal recessive disorder, caused by mutations in the NPC1 or NPC2 genes.
Hanna Alobaidy, Stefan Burdach
wiley   +1 more source

High Density Lipoprotein: Assembly, Structure, Cargo, and Functions

International Scholarly Research Notices, Volume 2013, Issue 1, 2013., 2013
Cardiovascular disease (CVD) is the leading cause of death globally. For close to four decades, we have known that high density lipoprotein (HDL) levels are inversely correlated with the risk of CVD. HDL is a complex particle that consists of proteins, phospholipids, and cholesterol and has the ability to carry micro‐RNAs.
Andrew J. Murphy, X.-P. Chu, G. Cui, F. Moccia, S. Trapp   +4 more
wiley   +1 more source

Psychosine Alleviates Colitis via Inhibiting Th1 and Th17 Cell Immune Responses in Inflammatory Bowel Diseases

Journal of Gastroenterology and Hepatology, Volume 41, Issue 2, Page 686-695, February 2026.
ABSTRACT Background Aberrant T‐helper 1 (Th1) and Th17 cell activation is involved in the pathogenesis of inflammatory bowel disease (IBD). Psychosine is known to induce apoptosis, promote astrocyte activation, and inhibit osteoclastogenesis. However, the role of psychosine on Th1 and Th17 cell immune responses has not been previously reported. In this
Ritian Lin, Jiayi Tu, Shan Li, Qinjuan Sun, Lan Zhong   +4 more
wiley   +1 more source

High‐Density Lipoproteins and the Immune System

Journal of Lipids, Volume 2013, Issue 1, 2013., 2013
High‐density lipoprotein (HDL) plays a major role in vasodilation and in the reduction of low‐density lipoprotein (LDL) oxidation, inflammation, apoptosis, thrombosis, and infection; however, HDL is now less functional in these roles under certain conditions.
Hidesuke Kaji, Maurizio Averna
wiley   +1 more source

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza, Roberto Giugliani, Debra S. Regier, Jeanine Jarnes   +3 more
wiley   +1 more source

Long Pentraxin 3: Experimental and Clinical Relevance in Cardiovascular Diseases

Mediators of Inflammation, Volume 2013, Issue 1, 2013., 2013
Pentraxin 3 (PTX3) is an essential component of the humoral arm of innate immunity and belongs, together with the C‐reactive protein (CRP) and other acute phase proteins, to the pentraxins′ superfamily: soluble, multifunctional, pattern recognition proteins.
Fabrizia Bonacina, Andrea Baragetti, Alberico Luigi Catapano, Giuseppe Danilo Norata, Austin Meng Guo   +4 more
wiley   +1 more source

Pentraxin 3(PTX 3): An Endogenous Modulator of the Inflammatory Response

Mediators of Inflammation, Volume 2012, Issue 1, 2012., 2012
Inflammatory or anti‐inflammatory? That is the question as far as the acute‐phase response and its mediators, the pentraxins, are concerned. Only some ten years ago, the classical or short pentraxin C‐reactive protein and the newly discovered long pentraxin PTX3 were considered to exert most of the detrimental effects of acute inflammation, whether ...
P. Kunes, Z. Holubcova, M. Kolackova, J. Krejsek, François Mach   +4 more
wiley   +1 more source