Results 51 to 60 of about 42,400 (289)

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

Differentiation of norm and pathology during selective biochemical skreening of lysosomal storage diseases with increased excretion of oligosaccharides [PDF]

The Ukrainian Biochemical Journal, 2015
Oligosaccharides are a class of polymeric carbohydrates, which are constituents of a glycoside portion of glycoprotein and glycolipid molecules. The lysosomal hydrolase dysfunction due to lysosomal storage disorders results in partial or complete failure
N. Y. Mytsyk, N. V. Olkhovych, N. G. Gorovenko   +2 more
doaj   +1 more source

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

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations. [PDF]

, 2019
Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of frontotemporal dementia. Most pathogenic GRN mutations result in progranulin haploinsufficiency, which is thought to cause frontotemporal dementia in GRN mutation ...
Arrant, Andrew E, Boyle, Nicholas R, Grinberg, Lea T, Hoffmann, Madelyn Q, Kashyap, Shreya N, Miller, Bruce L, Murchison, Charles F, Nana, Alissa L, Ramos, Eliana Marisa, Roberson, Erik D, Roth, Jonathan R, Seeley, William W, Spina, Salvatore   +12 more
core  

Insights into molecular mechanisms of disease in Neurodegeneration with Brain Iron Accumulation; unifying theories. [PDF]

, 2016
Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterised by dystonia, parkinsonism and spasticity. Iron accumulates in the basal ganglia and may be accompanied by Lewy bodies, axonal swellings and hyperphosphorylated ...
Adibhatla, Aghajanian, Alazami, Alderson, Andrews, Balboa, Balsinde, Barbeito, Beck, Bosveld, Bras, Bras, Breus, Brissot, Broekemeier, Brunetti, Burn, Campanella, Chen, Cozzi, Crichton, Cui, Curtis, Dall'Armi, Daugherty, Davis, Deas, Dehay, Deng, Deschauer, Di Fonzo, Dick, Duran, Dusi, Eckhardt, Edvardson, Elbaz-Alon, Engel, Friedman, Fukunaga, Gadd, Gitler, Gonzalez-Cuyar, Green, Gregory, Gregory, Grünewald, Haack, Hailey, Hallgren, Hama, Hamasaki, Hartig, Hartig, Hayflick, Hayflick, Hill, Hogarth, Hong, Hortnagel, Houlden, Hönscher, Itoh, Iuso, Jana, Jenkins, Jeong, Jiang, Jin, Kaneko, Keller, Keogh, Kondo, Kono, Kotzbauer, Kruer, Kruer, Kruer, Kruer, Kurz, Kühlbrandt, Landouré, Larsson, Lei, Leonardi, Leoni, Levi, Li, Liou, Lu, Maday, Mahadevan, Malik, Mancuso, Manjithaya, Mariño, McNeill, Moreno, Morgan, Morita, Nemazanyy, Nousbeck, Oide, Ong, Paisan-Ruiz, Paisán-Ruiz, Park, Perry, Pivtoraiko, Poli, Polishchuk, Potter, Proikas-Cezanne, Ramirez, Ramonet, Rana, Riku, Ross, Ross, Rouault, Rouault, Roy, Saitsu, Scherz-Shouval, Schmidt, Schneider, Schneider, Seleznev, Shinzawa, Siudeja, Song, Strokin, Strokin, Tan, Tooze, Tsunemi, Usenovic, Vidal, Walia, Williams, Wu, Xu, Yadrick, Yang, Yoshida, Yoshida, Zhang, Zhou, Zorzi   +148 more
core   +1 more source

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

Autophagy in lysosomal storage disorders [PDF]

Autophagy, 2012
Lysosomes are ubiquitous intracellular organelles that have an acidic internal pH, and play crucial roles in cellular clearance. Numerous functions depend on normal lysosomes, including the turnover of cellular constituents, cholesterol homeostasis, downregulation of surface receptors, inactivation of pathogenic organisms, repair of the plasma membrane
Lieberman AP, Puertollano R, Raben N, Slaugenhaupt S, Walkley SU, BALLABIO, ANDREA   +5 more
openaire   +4 more sources

UiO‐66 metal–organic frameworks in biomedicine: From structural tunability to bioimaging, photodiagnostics, and photodynamic cancer therapy

FEBS Open Bio, EarlyView.
UiO‐66(Zr) metal–organic frameworks are chemically stable, biocompatible, and highly tunable nanomaterials. Their modular structure enables controlled drug delivery, multimodal bioimaging, and light‐activated photodynamic therapy, supporting integrated diagnostic and therapeutic (theranostic) applications in cancer and biomedical research.
Veronika Huntošová, Grigorii Rakhalskii, Miroslav Almáši   +2 more
wiley   +1 more source

Drug delivery in overcoming the blood-brain barrier: role of nasal mucosal grafting [PDF]

, 2017
The blood–brain barrier (BBB) plays a fundamental role in protecting and maintaining the homeostasis of the brain. For this reason, drug delivery to the brain is much more difficult than that to other compartments of the body. In order to bypass or cross
Carafa, Maria, Di Marzio, Luisa, Hanieh, PATRIZIA NADIA, Marianecci, Carlotta, Paolino, Donatella, Rinaldi, Federica   +5 more
core   +1 more source