Results 51 to 60 of about 154,911 (267)

Identification and characterisation of calcitonin receptor isoforms expressed in glioblastoma derived glioma stem and U‐87 MG cells

FEBS Open Bio, EarlyView.
Glioblastoma cells express calcitonin receptor variants (CT receptor isoforms) that may help them survive stress. Using qPCR, transcript‐specific long‐read nanopore sequencing, immunofluorescence co‐localisation and comparative sequence analysis, this study identifies a novel alternatively spliced CALCR transcript that encodes the CTb receptor isoform ...
Pragya Gupta, Sebastian GB Furness, Tahereh Gharbi, Ric De Paoli‐Iseppi, Shweta S. Joshi, Michael Clark, David L. Hare, Peter Wookey   +7 more
wiley   +1 more source

Is Parkinson’s disease a lysosomal disorder? [PDF]

Brain, 2018
Common forms of Parkinson's disease have long been described as idiopathic, with no single penetrant genetic factor capable of influencing disease aetiology. Recent genetic studies indicate a clear association of variants within several lysosomal genes as risk factors for idiopathic Parkinson's disease.
Andrés D, Klein, Joseph R, Mazzulli
openaire   +2 more sources

Types and Genetic Evaluation of Lysosomal Storage Diseases in Kurdistan Region

مجلة الكوفة الطبية
Background and objectives: Lysosomal storage diseases are a set of single-gene disorders that is attributed to insufficient certain lysosomal hydrolase activity or non-enzymatic proteins vital for typical lysosomal functions.
Lana Ahmed Mohammed
doaj   +1 more source

Cell surface CD11c as a neutrophil aging marker molecule

FEBS Open Bio, EarlyView.
Cell surface CD11chi neutrophils were more aged and had better phagocytic function than CD11c−/lo neutrophils. Transcriptomic analysis of CD11chi neutrophils and CD11c−/lo neutrophils in pediatric population showed that the most difference was seen in infants.
Sophia Koutsogiannaki, Fahd Alhamdan, Erik Malm, Marie Bermudez, Samuel Y. Kim, Koichi Yuki   +5 more
wiley   +1 more source

Type I interferons modulate autophagy to shape gemcitabine response in pancreatic cancer cells

FEBS Open Bio, EarlyView.
Type I interferons differentially modulate autophagy and the response of pancreatic cancer cells to gemcitabine. IFNα2b stimulates autophagic flux and protects cells from gemcitabine‐induced cell death, contributing to chemoresistance. In contrast, IFNβ1a inhibits autophagosome formation and enhances gemcitabine‐induced cell death, resulting in ...
Lucy E. Bonilla, Martín M. Ledesma, Santiago A. Behr, Matías A. Pibuel, María L. Palanek, Daniel H. Grasso, Maria N. Garcia, Juan Garona, Silvina L. Lompardía, Elida Álvarez, Daniela L. Papademetrio   +10 more
wiley   +1 more source

TRPML1 agonist ML‐SA5 attenuates pulmonary fibroblast activation by suppressing mTOR and restoring autophagic flux

FEBS Open Bio, EarlyView.
TGF‐β1 stimulation downregulates lysosomal channel TRPML1 in pulmonary fibroblasts. The TRPML1 agonist ML‐SA5 suppressed fibroblast‐to‐myofibroblast activation and collagen production. Mechanistically, ML‐SA5 inhibited mTOR phosphorylation, restored autophagic flux, and its effects were enhanced by rapamycin (mTOR inhibitor) and reversed by MHY1485 ...
Jiatong Yao, Xiaoting Kang, Lulu Meng, Shaoxuan Zhang, Qiujie Li, Jinyu Zhou, Mengyue Xue, Chu Li, Hua Zhu, Pengzhou Hang, Jing Zhao   +10 more
wiley   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency

Orphanet Journal of Rare Diseases, 2018
Background Lysosomal acid lipase deficiency is an autosomal recessive metabolic disease with a wide range of severity from Wolman Disease to Cholesterol Ester Storage Disease. Recently enzyme replacement therapy with sebelipase alpha has been approved by
Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino, Stefano Bertolini   +4 more
doaj   +1 more source

Cerebrospinal Fluid Over Plasma Links Analytes to Cognitive Decline in Older Adults at Risk for Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To identify inflammatory analytes in cerebrospinal fluid (CSF) and plasma associated with cognitive decline in cognitively normal (CN) older adults at risk for Alzheimer's disease (AD). Methods In a longitudinal study of 118 CN older adults (65–80 years, 54% APOE ε4, 26% preclinical AD), 1331 CSF and 1501 plasma analytes were ...
Jagan A. Pillai, Audrey Zhu, Chunxuan Ma, Ming Wang, Yifan Yang, Lynn M. Bekris, Maria Khrestian, Frank P. DiFilippo, Mikhail Nasrallah, Aaron Burberry, James B. Leverenz, Yuan Hou, Feixiong Cheng, Stephen M. Rao   +13 more
wiley   +1 more source

Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson’s disease pathogenesis

Acta Neuropathologica Communications, 2020
Parkinson’s disease (PD) and atypical parkinsonian syndromes (APS) are symptomatically characterized by parkinsonism, with the latter presenting additionally a distinctive range of atypical features.
Stefanie Smolders, Christine Van Broeckhoven   +1 more
doaj   +1 more source