Results 61 to 70 of about 249,219 (350)

Huge aneurysm of the ascending aorta in a patient with adult-type Pompe's disease: histological findings mimicking fibrillinopathy [PDF]

, 2017
Adult-type Pompe's disease (glycogen storage disease type II) has rarely been shown to present with dilatative arteriopathy, suggesting potential smooth muscle involvement in addition to lysosomal glycogen deposits usually restricted to skeletal muscle ...
Banz, Yara, Carrel, Thierry, Goeber, Volkhard, Kaeberich, Anja   +3 more
core  

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Chan, JK, Howe, SJ, McKay, TR, Rahim, AA, Waddington, SN, Ward, NJ   +6 more
core   +1 more source

MicroRNA 196a contributes to the aggressiveness of esophageal adenocarcinoma through the MYC/TERT/NFκB axis

Molecular Oncology, EarlyView.
mir‐196a promotes Esophagus Adenocarcinoma aggressiveness. On one hand, mir‐196a targets the valosin‐containing protein (VCP) mRNA, causing the accumulation of c‐MYC protein that leads to high amounts of TERT. On the other hand, mir‐196a targets the inhibitor of NFκB (NFKBIA).
Jesús García‐Castillo, Carlos M. Martínez‐Cáceres, Manuel Bernabé‐García, Vicente Munitiz, David Ruiz de Angulo, Pascual Parrilla, Ángeles Ortiz, Luisa F. Martínez de Haro, María L. Cayuela   +8 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

The anticancer effect of the HDAC inhibitor belinostat is enhanced by inhibitors of Bcl‐xL or Mcl‐1 in ovarian cancer

Molecular Oncology, EarlyView.
The pan‐HDAC inhibitor belinostat increases the expression of the pro‐apoptotic proteins Bim, Puma, and Noxa and induces apoptosis in ovarian cancer cell lines and patient‐derived tumor organoids when used at high concentrations. Moreover, inhibiting the anti‐apoptotic proteins Bcl‐xL or Mcl‐1 sensitizes these preclinical models to the cytotoxic effect
Cécilia Thomine, Sterenn Guillemot, Louis‐Bastien Weiswald, Romane Florent, Edwige Abeilard, Florence Giffard, Emilie Brotin, Mélanie Briand, Enora Dolivet, Laurent Poulain, Marie Villedieu   +10 more
wiley   +1 more source

Xenobiotic metabolism: the effect of acute kidney injury on non-renal drug clearance and hepatic drug metabolism. [PDF]

, 2014
Acute kidney injury (AKI) is a common complication of critical illness, and evidence is emerging that suggests AKI disrupts the function of other organs.
Abosaif, Andres-Hernando, Andres-Hernando, Barbara Philips, Boucher, Bougle, Brown, Chan, Chawla, Chung, Doi, Dowling, Dreisbach, Dreisbach, English, Fadillioglu, Gardiner, Gertz, Golab, Group, Gurley, Hassoun, Heinemeyer, Heinemeyer, Iain MacPhee, Izuwa, John Dixon, Karim, Katie Lane, Kirwan, Kirwan, Klein, Kramer, Krueger, Kunihara, Kunuzova, Lane, Lash, Leblanc, Lee, Lee, Lohr, Martyn, Mastorakos, Meier-Hellmann, Michaud, Michaud, Miyazawa, Muntane-Relat, Murakami, Naud, Naud, Nicholson, Nolin, Nolin, Okabe, Okabe, Okabe, Owen, O’Shaunessy, Park, Park, Philips, Power, Schneider, Serteser, Shi, Shibata, Smith, Soni, Spapen, Srinivas, Sun, Tanabe, Tian, Venkatesh, Wang, Whelton, Wilkinson, Wilson, Yamaguchi, Yoshitani, Yu   +82 more
core   +2 more sources

A nucleotide‐independent, pan‐RAS‐targeted DARPin elicits anti‐tumor activity in a multimodal manner

Molecular Oncology, EarlyView.
We report a Designed Ankyrin Repeat Protein that binds and inhibits RAS proteins, which serve as central cell signaling hubs and are essential for the progression of many cancers. Its unique feature is that it does not discriminate between different RAS isoforms or mutations and is capable of binding to RAS in both its active (GTP‐bound) and inactive ...
Jonas N. Kapp, Wouter P. R. Verdurmen, Jonas V. Schaefer, Kari Kopra, Gabriela Nagy‐Davidescu, Elodie Richard, Marie‐Julie Nokin, Patrick Ernst, Rastislav Tamaskovic, Martin Schwill, Ralph Degen, Claudia Scholl, David Santamaria, Andreas Plückthun   +13 more
wiley   +1 more source

Targeted delivery of lysosomal enzymes to the endocytic compartment in human cells using engineered extracellular vesicles. [PDF]

, 2019
Targeted delivery of lysosomal enzymes to the endocytic compartment of human cells represents a transformative technology for treating a large family of lysosomal storage diseases (LSDs).
Brown, Annie, Do, Mai Anh, Levy, Daniel, Lu, Biao, Marriott, Gerard   +4 more
core   +1 more source

Orphan drugs and the NHS: Should we value rarity [PDF]

, 2005
Cost effectiveness plays an important part in current decisions about the funding of health technologies. Drugs for rare disease (orphan drugs) are often expensive to produce and, by definition, will benefit only small numbers of patients.
Claxton, K., McCabe, C., Tsuchiya, A.
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