Results 51 to 60 of about 72,104 (287)

Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI [PDF]

, 2017
Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo ...
Adamo, Ana María, Franco, Paula Gabriela, Mathieu, Patricia Andrea, Perez, Maria Julia, Setton, Clara Patricia, Silvestroff, Lucas   +5 more
core  

Deciphering transcriptional plasticity in pancreatic ductal adenocarcinoma reveals alterations in sensory neuron innervation

Molecular Oncology, EarlyView.
Pancreatic sensory neurons innervating healthy and PDAC tissue were retrogradely labeled and profiled by single‐cell RNA sequencing. Tumor‐associated innervation showed a dominant neurofilament‐positive subtype, altered mitochondrial gene signatures, and reduced non‐peptidergic neurons.
Elena Genova, Michele Montrone, Uday Rangaswamy, Francesco Diversi, Irene Schiavo, Denise Ferrarini, Roberta Di Florio, Irene Longo, Michele Coscia, Nicola Zamboni, Giorgia Demontis, Lisa Veghini, Vincenzo Corbo, Remo Sanges, Paul Heppenstall   +14 more
wiley   +1 more source

Interaction of HS1BP3 with cortactin modulates TKS5 localisation, cell secretion and cancer malignancy

Molecular Oncology, EarlyView.
Here, we demonstrate that HS1BP3 interacts with Cortactin through a proline‐rich region (PRR3.1) and show that this interaction, and HS1BP3 itself, promote cancer cell proliferation and invasion. Inhibition of this interaction leads to build‐up of TKS5 in multivesicular endosomes and altered secretion of CD63 and CD9, providing an explanation for the ...
Arja Arnesen Løchen, Kristiane Søreng, Chiara Veroni, Laura Trachsel‐Moncho, Nagham Asp, Robin Gaupset, Lars Gustav Lyckander, Helene Knævelsrud, Lars Eftang, Anne Simonsen   +9 more
wiley   +1 more source

Glutamate induces autophagy via the two-pore channels in neural cells [PDF]

, 2016
NAADP (nicotinic acid adenine dinucleotide phosphate) has been proposed as a second messenger for glutamate in neuronal and glial cells via the activation of the lysosomal Ca2+ channels TPC1 and TPC2.
 , ,, Antonioli, M, Bincoletto, C, Fimia, G, Hirata, H, Nascimento, A, Pereira, G, Piacentini, M, Smaili, S, Ureshino, R, Vescovo, T   +11 more
core   +4 more sources

Dapagliflozin prevents methylglyoxal‐induced retinal cell death in ARPE‐19 cells

FEBS Open Bio, EarlyView.
Diabetic macular oedema is a diabetes complication of the eye, which may lead to permanent blindness. ARPE‐19 are human retinal cells used to study retinal diseases and potential therapeutics. Methylglyoxal is a compound increased in uncontrolled diabetes due to elevated blood glucose.
Naina Trivedi, Zainab Quraishi, Shima Khezri Azizi Far, Madaleine Ward, Aidan Conway, Reem Abdulredha, Eman Mshari, Yousif A. Shamsaldeen   +7 more
wiley   +1 more source

Lysossomal acid lipase activity in dried blood spots - preliminar results [PDF]

, 2017
Lysosomal storage diseases (LSDs) are a group of heterogeneous and multisystemic disorders caused by defects in enzymes responsible for the intralysosomal degradation of particular compounds. One of them is Lysosomal Acid Lipase Deficiency (LALD) that is
Alves, Sandra, Gaspar, Paulo, Vilarinho, Laura   +2 more
core  

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. [PDF]

, 2016
BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Dickson, Patricia I, Ellinwood, N Matthew, Esko, Jeffrey D, Gordts, Philip L, Khalid, Omar, Schwartz, Philip H, Vera, Moin U, Wang, Raymond Y   +7 more
core   +7 more sources

Consensus position statement for the diagnosis and treatment of lysosomal storage diseases with neurological manifestations

Българска неврология, 2023
Lysosomal storage diseases involve about 50 rare genetic metabolic diseases engaging  various mutations/pathological variants that cause enzyme deficiency and lysosomal  dysfunction due to accumulation of certain substrates in them: lipids, glycoproteins,
Ivan Milanov, Ivailo Tournev, Veneta Bozhinova   +2 more
doaj  

The Role of Exosomes in Lysosomal Storage Disorders

Biomolecules, 2021
Exosomes, small membrane-bound organelles formed from endosomal membranes, represent a heterogenous source of biological and pathological biomarkers capturing the metabolic status of a cell.
Adenrele M. Gleason, Elizabeth G. Woo, Cindy McKinney, Ellen Sidransky   +3 more
doaj   +1 more source