Results 51 to 60 of about 250,934 (302)

Lysosomal acid lipase deficiency: analysis of enzyme replacement therapy [PDF]

РМЖ. Мать и дитя, 2022
N.A. Polyanskaya1, A.A. Gorbunova2, E.B. Pavlinova1, O.A. Savchenko1, I.A. Kirshina1, M.E. Bagaeva3,4, T.V. Strokova3,4 1Omsk State Medical University, Omsk, Russian Federation 2Regional Children’s Clinical Hospital, Omsk, Russian Federation ...
N.A. Polyanskaya, A.A. Gorbunova, E.B. Pavlinova, O.A. Savchenko, I.A. Kirshina, M.E. Bagaeva, T.V. Strokova   +6 more
doaj  

International guidelines for the management and treatment of Morquio A syndrome. [PDF]

, 2014
Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired ...
Berger, Kenneth I, Giugliani, Roberto, Harmatz, Paul, Hendriksz, Christian J, Kampmann, Christoph, Mackenzie, William G, Raiman, Julian, Savarirayan, Ravi, Villarreal, Martha Solano   +8 more
core   +2 more sources

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

Neutralizing anti-drug antibodies in Fabry disease have no obvious clinical impact?

Orphanet Journal of Rare Diseases, 2018
Fabry disease (FD) is a rare X-linked disorder caused by a deficiency of lysosomal α-galactosidase A activity. Treatment with recombinant enzyme replacement therapy is available since 2001 and the effects of anti-drug antibodies (ADA) on therapy efficacy
Malte Lenders, Boris Schmitz, Stefan-Martin Brand, Eva Brand   +3 more
doaj   +1 more source

Insights into the pathogenesis of nicotine addiction. Could a salivary biosensor be useful in Nicotine Replacement Therapy (NRT)? [PDF]

, 2019
Nicotine has gained the attention of the medical community due to its insidious addictive mechanisms which lead to chronic consumption. The multitude of compounds derived from tobacco smoke have local and systemic negative impacts, resulting in a large ...
Alexescu, Teodora G, Bordea, Roxana, Boșca, Bianca A, Băbțan, Anida-Maria, Câmpian, Radu S, Feurdean, Claudia N, Ilea, Aranka, Ionel, Anca, Miclăuș, Viorel, Mirică, Codruța I, Petrescu, Nausica B, Ruxanda, Flavia, Todea, Adina D, Uriciuc, Willi A   +13 more
core   +2 more sources

Transcriptional network analysis of PTEN‐protein‐deficient prostate tumors reveals robust stromal reprogramming and signs of senescent paracrine communication

Molecular Oncology, EarlyView.
Combining PTEN protein assessment and transcriptomic profiling of prostate tumors, we uncovered a network enriched in senescence and extracellular matrix (ECM) programs associated with PTEN loss and conserved in a mouse model. We show that PTEN‐deficient cells trigger paracrine remodeling of the surrounding stroma and this information could help ...
Ivana Rondon‐Lorefice, Jose I. Lopez, Aitziber Ugalde‐Olano, Maite Zufiaurre, Ianire Astobiza, Natalia Martin‐Martin, Laura Bozal‐Basterra, Saioa Garcia‐Longarte, Amaia Zabala‐Letona, Sofia Rey, Aida Santos‐Martin, Miguel Unda, Ana Loizaga‐Iriarte, Mariona Graupera, Paolo Nuciforo, Arkaitz Carracedo, Isabel Mendizabal   +16 more
wiley   +1 more source

Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy. [PDF]

, 2017
Previous cross-sectional studies reported a high prevalence of ascending aorta dilations/aneurysms in male adults with Fabry disease, independently of cardiovascular risk factors.
Barbey, F., Dormond, O., Hajdu, S., Monney, P., Qanadli, S.D., Schwitter, J., Tran, C.   +6 more
core   +1 more source

Potential therapeutic targeting of BKCa channels in glioblastoma treatment

Molecular Oncology, EarlyView.
This review summarizes current insights into the role of BKCa and mitoBKCa channels in glioblastoma biology, their potential classification as oncochannels, and the emerging pharmacological strategies targeting these channels, emphasizing the translational challenges in developing BKCa‐directed therapies for glioblastoma treatment.
Kamila Maliszewska‐Olejniczak, Karolina Pytlak, Sandra Jaworowska, Bogusz Kulawiak, Piotr Bednarczyk   +4 more
wiley   +1 more source

Pancreatic Enzyme Replacement Therapy in Cystic Fibrosis

Nutrients, 2022
While typically considered a pulmonary disease, cystic fibrosis patients develop significant nutritional complications and comorbidities, especially those who are pancreatic insufficient. Clinicians must have a high suspicion for cystic fibrosis among patients with clinical symptoms of pancreatic insufficiency, and pancreatic enzymatic replacement ...
Freswick, Peter N., Reid, Elizabeth K., Mascarenhas, Maria R.   +2 more
openaire   +2 more sources

Exploiting metabolic adaptations to overcome dabrafenib treatment resistance in melanoma cells

Molecular Oncology, EarlyView.
We show that dabrafenib‐resistant melanoma cells undergo mitochondrial remodeling, leading to elevated respiration and ROS production balanced by stronger antioxidant defenses. This altered redox state promotes survival despite mitochondrial damage but renders resistant cells highly vulnerable to ROS‐inducing compounds such as PEITC, highlighting redox
Silvia Eller, Susanne Ebner, Carmen Haselrieder, Julia K. Günther, Astrid Drasche, Sophie Strich, Chiara Volani, Andrea Medici, Aleksandar Nikolajevic, Alex Deltedesco, Johannes E. Sigmund, Michael J. Blumer, Martin Hermann, Johanna Vanacker, Gerald Brandacher, Eduard Stefan, Omar Torres‐Quesada, Jakob Troppmair   +17 more
wiley   +1 more source