Results 201 to 210 of about 563,924 (339)

FAM136A depletion induces mitochondrial stress and reduces mitochondrial membrane potential and ATP production

FEBS Open Bio, EarlyView.
FAM136A depletion upregulated ROS production, reduced mitochondrial membrane potential (ΔΨ) and ATP production, and upregulated expression of PCK1, PCK2, HMGCS1, and HMGCS2. The expression of both TOMM22 and TOMM20 was also upregulated. FAM136A depletion reduced HCCS that produce holocytochrome c by combining heme to apocytochrome c, and reduced the ...
Yushi Otsuka, Masato Yano
wiley   +1 more source

Phenotypic continuum of NFU1‐related disorders

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian   +45 more
wiley   +1 more source

Pharmacological effects of osimertinib on a chicken chorioallantoic membrane xenograft model with the EGFR exon‐19‐deleted advanced NSCLC mutation

FEBS Open Bio, EarlyView.
Osimertinib reduces angiogenesis and PDL1 expression in in ovo tumors, transforming them into ‘cold tumors’ with lower immune activity. Anatomopathological and transcriptomic analyses highlight its therapeutic impact on tumor biology. This study underscores osimertinib's potential to reshape the tumor microenvironment and provides insights into its ...
David Barthélémy, Arnaud Vigneron, Xavier Rousset, Jérome Guitton, Emmanuel Grolleau, Margaux Raffin, Julie Balandier, Gaëlle Lescuyer, Mathilde Bardou, Florence Geiguer, Sébastien Couraud, Claire Bardel, Jean Viallet, Nazim Benzerdjeb, Léa Payen   +14 more
wiley   +1 more source

Vascular endothelial‐cadherin as a marker of endothelial injury in preclinical Alzheimer disease

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1926-1940, December 2022., 2022
Abstract Objective Endothelial dysfunction is an early and prevalent pathology in Alzheimer disease (AD). We here investigate the value of vascular endothelial‐cadherin (VEC) as a cerebrospinal fluid (CSF) marker of endothelial injury in preclinical AD.
Rawan Tarawneh, Rachel S. Kasper, Jessie Sanford, Chia‐Ling Phuah, Jason Hassenstab, Carlos Cruchaga   +5 more
wiley   +1 more source

A MERLIN survey of 4.7-GHz excited OH masers in star-forming regions [PDF]

, 2004
Lisa Harvey-Smith, R. J. Cohen
openalex   +1 more source

Characterisation of the role played by ELMO1, GPR141 and the intergenic polymorphism rs918980 in Fuchs' dystrophy in the Indian population

FEBS Open Bio, EarlyView.
This study reports the upregulation of ELMO1 and GPR141 in human Fuchs' endothelial corneal dystrophy (FECD) corneal endothelium and ultraviolet A‐induced FECD mice model. A genetic association of an intergenic single nucleotide polymorphism rs918980 present between both genes is observed with FECD in the Indian population.
Susmita Sharma, Samar Kumar Basak, Sujata Das, Debasmita Pankaj Alone   +3 more
wiley   +1 more source

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1941-1952, December 2022., 2022
Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Michelle M. Lee, Graeme S. V. McDowell, Darryl C. De Vivo, Daniel Friedman, Samuel F. Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A. Sanchez‐Lara, Michelle Allen‐Sharpley, Jodi Warman‐Chardon, Alexander Solyom, Thierry Levade, Edward H. Schuchman, Steffany A. L. Bennett, David A. Dyment, Toni S. Pearson   +16 more
wiley   +1 more source

Hubble Space TelescopeObservations of Star-forming Regions in NGC 3994/3995 [PDF]

, 2004
D. Eggers, D. Weistrop, Ava Stone, C. H. Nelson, Mark H. Hancock   +4 more
openalex   +1 more source

Mapping Hsp104 interactions using cross‐linking mass spectrometry

FEBS Open Bio, EarlyView.
This study examines how cross‐linking mass spectrometry can be utilized to analyze ATP‐induced conformational changes in Hsp104 and its interactions with substrates. We developed an analytical pipeline to distinguish between intra‐ and inter‐subunit contacts within the hexameric homo‐oligomer and discovered contacts between Hsp104 and a selected ...
Kinga Westphal, Karolina Michalska, Andrzej Joachimiak, Lukasz A. Joachimiak   +3 more
wiley   +1 more source

Brain magnetic resonance imaging predictors in anti‐N‐methyl‐D‐aspartate receptor encephalitis

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1974-1984, December 2022., 2022
Abstract Objective Brain magnetic resonance imaging (MRI) findings in anti‐N‐methyl‐D‐aspartate receptor (NMDAR) encephalitis are nonspecific and rarely have obvious associations with clinical characteristics and outcomes. This study aimed to comprehensively describe the MRI features of patients with NMDAR encephalitis, examine their associations with ...
Ying‐Ying Zhao, Bing Han, Cui‐Hong Qin, Xue‐Xiu Shi, Wen‐Jing Yun, Meng Wang, Bo Yuan, Tong‐Wen Sun, Hai‐Xu Wang   +8 more
wiley   +1 more source