Results 71 to 80 of about 532,411 (388)

Novel Enzyme Replacement Therapies for Neuropathic Mucopolysaccharidoses [PDF]

International Journal of Molecular Sciences, 2020
Although the advent of enzyme replacement therapy (ERT) for mucopolysaccharidoses (MPS) has paved the way for the treatment for these hereditary disorders, the blood brain barrier (BBB) has prevented patients with MPS involving the central nervous system (CNS) from benefitting from ERT.
Yuji Sato, Torayuki Okuyama
openaire   +2 more sources

Inhibiting stearoyl‐CoA desaturase suppresses bone metastatic prostate cancer by modulating cellular stress, mTOR signaling, and DNA damage response

FEBS Letters, EarlyView.
Bone metastasis in prostate cancer (PCa) patients is a clinical hurdle due to the poor understanding of the supportive bone microenvironment. Here, we identify stearoyl‐CoA desaturase (SCD) as a tumor‐promoting enzyme and potential therapeutic target in bone metastatic PCa.
Alexis Wilson, Mackenzie K Herroon, Shane Mecca, Laimar C Garmo, Jacob Lindquist, Shrila Rajendran, Steve M. Patrick, Izabela Podgorski   +7 more
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

Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency [PDF]

, 2010
Objective: Patients with congenital adrenal hyperplasia due to P450 oxidoreductase (POR) deficiency(ORD) present with disordered sex development and glucocorticoid deficiency.
Arlt, Bebia, Chang, de Morais, Dominique Maiter, Dorota Tomalik-Scharte, Fl  ck, Fuhr, Gomes, Hannah E Ivison, Henderson, Jetter, Julia Kirchheiner, Kelley, Kirchheiner, Kranendonk, Nebert, Nicolo, Parkinson, Porter, Ribes, Sachse, Tantcheva-Po  r, Tomalik-Scharte, Uwe Fuhr, Wiebke Arlt   +25 more
core   +2 more sources

Nicotinamide N‐methyltransferase promotes drug resistance in lung cancer, as revealed by nascent proteomic profiling

Molecular Oncology, EarlyView.
AZD9291 has shown promise in targeted cancer therapy but is limited by resistance. In this study, we employed metabolic labeling and LC–MS/MS to profile time‐resolved nascent protein perturbations, allowing dynamic tracking of drug‐responsive proteins. We demonstrated that increased NNMT expression is associated with drug resistance, highlighting NNMT ...
Zhanwu Hou, Zhen Wang, Fei Yang, Xiao Han, Lei Li, Huadong Liu   +5 more
wiley   +1 more source

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  

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

Adenosine‐to‐inosine editing of miR‐200b‐3p is associated with the progression of high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
A‐to‐I editing of miRNAs, particularly miR‐200b‐3p, contributes to HGSOC progression by enhancing cancer cell proliferation, migration and 3D growth. The edited form is linked to poorer patient survival and the identification of novel molecular targets.
Magdalena Niemira, Anna Skwarska, Karolina Chwialkowska, Agnieszka Ostrowska, Gabriela Sokolowska, Anna Zeller, Anna Erol, Andrzej Eljaszewicz, Bartosz Hanczaruk, Anna Michalska‐Falkowska, Agnieszka Tarasik, Joanna Reszec‐Gielazyn, Pawel Knapp, Marcin Moniuszko, Adam Kretowski   +14 more
wiley   +1 more source

A case of Pompe disease in infant

Нервно-мышечные болезни, 2015
A case of Pompe disease in infant in Orenburg is presented in this article. Clinical picture of the infantile form of the disease is described. Enzyme replacement therapy (ERT) with alglucosidase alfa is presented (alglucosidase alfa is not registered in
E. F. Sudorgina, S. B. Choloyan, M. V. Sheenkova, L. P. Kolesnikova   +3 more
doaj   +1 more source

Integrated genomic and proteomic profiling reveals insights into chemoradiation resistance in cervical cancer

Molecular Oncology, EarlyView.
A comprehensive genomic and proteomic analysis of cervical cancer revealed STK11 and STX3 as a potential biomarkers of chemoradiation resistance. Our study demonstrated EGFR as a therapeutic target, paving the way for precision strategies to overcome treatment failure and the DNA repair pathway as a critical mechanism of resistance.
Janani Sambath, Irene A. George, Srikanth S. Manda, Prasanth Ariyannur, Ekta R. Dhawale, Raja Sekhar Kommu, Rajan Datar, Darshana Patil, Vinita Trivedi, Manisha Singh, Kumar Prabhash, Sewanti Limaye, Richa Chauhan, Prashant Kumar   +13 more
wiley   +1 more source