Results 111 to 120 of about 3,248,558 (306)

An upstream open reading frame regulates expression of the mitochondrial protein Slm35 and mitophagy flux

FEBS Letters, EarlyView.
This study reveals how the mitochondrial protein Slm35 is regulated in Saccharomyces cerevisiae. The authors identify stress‐responsive DNA elements and two upstream open reading frames (uORFs) in the 5′ untranslated region of SLM35. One uORF restricts translation, and its mutation increases Slm35 protein levels and mitophagy.
Hernán Romo‐Casanueva, Ariann E. Mendoza‐Martínez, P. Abril Medina‐Flores, Carlos Campero‐Basaldua, Alexander DeLuna, Soledad Funes   +5 more
wiley   +1 more source

Mutation in ribosomal protein S5 leads to spectinomycin resistance in Neisseria gonorrhoeae.

Frontiers in Microbiology, 2013
Spectinomycin remains a useful reserve option for therapy of gonorrhea. The emergence of multidrug-resistant Neisseria gonorrhoeae strains with decreased susceptibility to cefixime and to ceftriaxone makes it the only medicine still effective for ...
Elena eIlina, Maja eMalakhova, Ivan eBodoev, Alla eFilimonova, Nina eOparina, Vadim eGovorun   +5 more
doaj   +1 more source

Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer [PDF]

, 2001
Minna Nyström, Claudia Perrera, Markus Räschle, Elena Panyushkina‐Seiler, Giancarlo Marra, Anna Curci, Barbara Quaresima, Francesco Costanzo, Michele D’Urso, Salvatore Venuta, Josef Jiricny   +10 more
openalex   +1 more source

In situ molecular organization and heterogeneity of the Legionella Dot/Icm T4SS

FEBS Letters, EarlyView.
We present a nearly complete in situ model of the Legionella Dot/Icm type IV secretion system, revealing its central secretion channel and identifying new components. Using cryo‐electron tomography with AI‐based modeling, our work highlights the structure, variability, and mechanism of this complex nanomachine, advancing understanding of bacterial ...
Przemysław Dutka, Yuxi Liu, Stefano Maggi, Debnath Ghosal, Jue Wang, Prashant P. Damke, Stephen D. Carter, Wei Zhao, Sukhithasri Vijayrajratnam, Joseph P. Vogel, Carrie L. Shaffer, Grant J. Jensen   +11 more
wiley   +1 more source

A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis [PDF]

, 2011
Shirli Israeli, Ziad Khamaysi, Dana Fuchs‐Telem, Janna Nousbeck, Richard N. Bergman, Ofer Sarig, Eli Sprecher   +6 more
openalex   +1 more source

Sequence determinants of RNA G‐quadruplex unfolding by Arg‐rich regions

FEBS Letters, EarlyView.
We show that Arg‐rich peptides selectively unfold RNA G‐quadruplexes, but not RNA stem‐loops or DNA/RNA duplexes. This length‐dependent activity is inhibited by acidic residues and is conserved among SR and SR‐related proteins (SRSF1, SRSF3, SRSF9, U1‐70K, and U2AF1).
Naiduwadura Ivon Upekala De Silva, Puspa Kunwar, Md Ibnul Rifat Rahman, Joanna Koryo Kwao, Nathan Lehman, Zihan Zhang, Trenton Paul, Claire Cheng, Nicholas Truex, Hui‐Ting Lee, Jun Zhang   +10 more
wiley   +1 more source

Iron Overload Is Rare in Patients Homozygous for the H63D Mutation [PDF]

, 2014
Melissa Kelley, Nikhil Joshi, Ya‐Gang Xie, Mark Borgaonkar   +3 more
openalex   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

PICALM::MLLT10 translocated leukemia

FEBS Letters, EarlyView.
This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen, Antonia C. Nakatsugawa, Natalie Barton, Henry Haines, Gary S. Stein, Janet L. Stein, Daniel S. Wechsler, Jessica L. Heath   +7 more
wiley   +1 more source

Effects of Angiotensin-I-Converting Enzyme (ACE) Mutations Associated with Alzheimer’s Disease on Blood ACE Phenotype

Biomedicines
Backgrounds. Our recent analysis of 1200+ existing missense ACE mutations revealed that 400+ mutations are damaging and led us to hypothesize that carriers of heterozygous loss-of-function (LoF) ACE mutations (which result in low ACE levels) could be at ...
Olga V. Kryukova, Igor O. Islanov, Elena V. Zaklyazminskaya, Dmitry O. Korostin, Vera A. Belova, Valery V. Cheranev, Zhanna A. Repinskaia, Svetlana A. Tonevitskaya, Pavel A. Petukhov, Steven M. Dudek, Olga A. Kost, Denis V. Rebrikov, Sergei M. Danilov   +12 more
doaj   +1 more source