Results 121 to 130 of about 11,144,186 (305)

Treatment with KCL‐286, a first‐in‐class retinoic acid receptor‐β (RARβ) agonist, ameliorates neuronal DNA damage and inflammation in a mouse model of Alzheimer's disease

FEBS Open Bio, EarlyView.
Repair of neuronal DNA damage in Alzheimer's disease by KCL‐286. (A) Amyloid‐β oligomers and plaques impair neuronal DNA repair pathways, leading to DNA double‐strand breaks and glial activation. (B) KCL‐286 activates RARβ/RXR signalling via retinoic acid response elements (RAREs), associated with increased BRCA1 expression, enhanced DNA repair and ...
Natasha Hill, Hassan Yousef Othman AlMuallim, Elouisa Maddock, Carl Hobbs, Earl Clarke, Maria B. Goncalves, Jonathan P. T. Corcoran   +6 more
wiley   +1 more source

Mouse very long-chain acyl-CoA synthetase in X-linked adrenoleukodystrophy

, 2002
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder characterized by accumulation of very long-chain fatty acids (VLCFA). This accumulation has been attributed to decreased VLCFA beta-oxidation and peroxisomal very long-chain acyl-CoA ...
Lu, Jyh-Feng, Kemp, Stephan, Smith, Kirby D., Heinzer, Ann K., Watkins, Paul A.   +4 more
core   +1 more source

Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.

Human mutation, 2001
L1 disease is a group of overlapping clinical phenotypes including X-linked hydrocephalus, MASA syndrome, spastic paraparesis type 1, and X-linked agenesis of corpus callosum. The patients are characterized by hydrocephalus, agenesis or hypoplasia of corpus callosum and corticospinal tracts, mental retardation, spastic paraplegia, and adducted thumbs ...
Weller, S., Gärtner, Jutta
openaire   +2 more sources

Importin 7 mediates the nuclear import of HIV‐1 integrase via a specific interacting interface

FEBS Open Bio, EarlyView.
HIV‐1 integrase enables viral DNA integration into the host genome. By binding to the core domain of the host protein Importin 7 via its C‐terminal domain, the integrase is transported across the nuclear membrane into the nucleus, where integration of the viral genome into host DNA takes place. This translocation is a critical step for subsequent viral
Juana Bana, Avigail Yariv, Tal Oppenheim, Hadar Amartely, Dana Reichmann, Oded Livnah   +5 more
wiley   +1 more source

Malformin A1–mediated cytotoxicity in ovarian cancer cells occurs through pyroptosis and autophagy

FEBS Open Bio, EarlyView.
This study investigated the effects of the natural compound Malformin A1 (MA1) on the cytoskeleton that regulates cell proliferation and migration. Disruption of the cytoskeleton can impair these processes and promote cancer cell death. MA1 disrupted cytoskeletal organization, induced DNA damage, inflammation, activated autophagy, and pyroptosis ...
Nada Abdullah Hassan, Ikram A. Burney, Shika Hanif Malgundkar, Siva Ramamoorthy, Ressin Varghese, Mohamed A. Al‐Kindi, Hamad Al Riyami, Shadia Al Bahlani, Sergey Dobretsov, Syed Imran Hassan, Benjamin K. Tsang, Yahya Tamimi   +11 more
wiley   +1 more source

Ionomycin suppresses cancer cell growth by disrupting mitochondrial transcription

FEBS Open Bio, EarlyView.
In this study, we identify a new function for the selective Ca2+ ionophore, ionomycin, as an inhibitor of mitochondrial transcription. Both total and nascent RNA analyses revealed that ionomycin treatment reduces the transcription of mitochondrial genes.
Lishen Wang, Mingqiang Deng, Dongmei He, Diqin Lai, Dongjun Liu, Dengyong Zhu, Zhenhua Zhang, Peng Tang, Chuanman Zhou, Menghui Yin, Xichen Bao   +10 more
wiley   +1 more source

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study

, 2014
X-linked adrenoleukodystrophy is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal transporter of very long-chain fatty acids.
Verhamme, Camiel, Dijkgraaf, Marcel G. W., Dijkstra, Inge M. E., Wanders, Ronald J. A., Engelen, Marc, de Visser, Marianne, Kemp, Stephan, Barbier, Mathieu, de Bie, Rob M. A., Aubourg, Patrick A., Poll-The, Bwee T., van Geel, Bjorn M., Schür, Remmelt   +12 more
core   +1 more source

Evolution‐guided yeast complementation reveals functional differences in human PSPH variants

FEBS Open Bio, EarlyView.
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez, Diana Ascencio, Miguel Vallebueno‐Estrada, Eduardo González‐Orozco, Christian Eduardo Martínez‐Guerrero, Rafael Montiel, Alexander DeLuna   +6 more
wiley   +1 more source

X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers

, 2019
X-linked Emery–Dreifuss muscular dystrophy (EDMD1) affects approximately 1:100,000 male births. Female carriers are usually asymptomatic but, in some cases, they may present clinical symptoms after age 50 at cardiac level, especially in the form of
Nicola Carboni, Luisa Politano, Michal Marchel, Alberto Palladino, Agnieszka Madej-Pilarczyk, Stefania del Gaudio, Esther Picillo, Gerardo Nigro, Emanuela Viggiano, Manuela Ergoli   +9 more
core   +1 more source

Heterotropic regulation and negative homotropic cooperativity

FEBS Open Bio, EarlyView.
We identified a structural module common to some proteins that couple negative cooperativity with heterotropic regulation, two features that rarely coexist. These proteins are ring‐like and present an ordered asymmetry whereby noncontacting subunits are symmetric, and their tertiary structure differs from that of contacting subunits.
Veronica Morea, Francesco Angelucci, Federica Arnesano, Gianmarco Pascarella, Patrizio Di Micco, Andrea Bellelli   +5 more
wiley   +1 more source