Results 51 to 60 of about 1,141,379 (303)

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

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

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

FEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi, Pilar Samperio Ventayol, Natalie Burkard, Nicolas Schlegel, Carmen Aguilar, Sina Bartfeld   +5 more
wiley   +1 more source

Severe congenital protein C deficiency: the use of protein C concentrates (human) as replacement therapy for life-threatening blood-clotting complications

Biologics: Targets & Therapy, 2008
Paul N KnoeblDepartment of Medicine 1, Division Hematology and Hemostasis, Medical University of Vienna, Vienna, AustriaAbstract: The protein C pathway has an important function in regulating and modulating blood coagulation and ensuring patency of the ...
Paul N Knoebl
doaj  

Early cirrhosis in a young female with protein C deficiency: An extremely unusual case report with review

Indian Journal of Pathology and Microbiology, 2016
Protein C deficiency is a well recognized risk factor for development of venous thromboembolism but has never been reported to be associated with development of liver cirrhosis .We report a case of a 26 years old female who presented with multiple ...
Nalini Bansal, Chhagan Bihari
doaj   +1 more source

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy. [PDF]

, 2019
COX20/FAM36A encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous COX20 missense mutation has been previously described in two separate consanguineous families.
Adams, David, Au, Margaret G, Bai, Renkui, Buckley, David J, Collier, Ashley, Cui, Hong, Diaz, Frank, Gahl, William, Graham, John M, Haude, Katrina, Kim, Jaemin, Lewis, Richard, Mathews, Katherine D, Millian Zamora, Francisca, Otero, Maria G, Panzer, Karin, Pierson, Tyler Mark, Tifft, Cynthia J, Tiongson, Emmanuelle, Toro, Camilo, Turner, Lesley   +20 more
core  

Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency::a systematic review [PDF]

, 2019
Background: Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies are rare fatty acid β-oxidation disorders. Without dietary management the conditions are life-threatening. We conducted a systematic
Clarke, Aileen, Connock, Martin, Fraser, Hannah, Geppert, Julia, Johnson, Rebecca, Johnson, Samantha, Stinton, Christopher, Taylor-Phillips, Sian   +7 more
core   +2 more sources

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile [PDF]

, 2016
Apolipoprotein C-III deficiency provides cardiovascular protection, but apolipoprotein C-III is not known to be associated with human amyloidosis. Here we report a form of amyloidosis characterized by renal insufficiency caused by a new apolipoprotein C ...
A Kawakami, A Kontush, A Kontush, A Kontush, A Mange, A von Eckardstein, A Zerrad-Saadi, AB Jorgensen, B Staels, CP Maury, CS Gangabadage, CS Wang, E Boisfer, E Nobecourt, E Windler, EM Ooi, G Gregorini, GG Tartaglia, GJ Miller, H Liu, H Naiki, I Tachmazidou, J Crosby, J Garnier, JA Vrana, JD Gillmore, JG Strauss, L Camont, M de Messieres, M De Pauw, M Epstein, M Guerin, M Guerin, M Holzer, M Larsson, M Marchesi, MB Pepys, MD Benson, MD Benson, MJ Chapman, N Fournier, NS Shachter, O Quehenberger, PN Hawkins, RJ Havel, S Haubenwallner, S Larrede, S Nicolardi, S Sethi, S Valleix, T Coelho, TI Pollin, WC Nichols, WH Capell, XC Jiang   +54 more
core   +5 more sources

Reciprocal control of viral infection and phosphoinositide dynamics

FEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source