Results 71 to 80 of about 726,285 (296)

Tau acetylation at K331 has limited impact on tau pathology in vivo

FEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto, Yukio Matsuba, Mika Takahashi, Takaomi C. Saido   +3 more
wiley   +1 more source

A Novel Frameshift Mutation in Two Siblings with Merosin-deficient Congenital Muscular Dystrophy

Haseki Tıp Bülteni, 2020
We present two siblings with elevated serum creatine kinase concentrations, developmental delay, muscle weakness, and contractures of the lower limbs. Cranial magnetic resonance imaging revealed diffuse white matter hyperintensity in both siblings.
Senem Ayça, Hamide Betül Gerik Çelebi, Sırrı Çam, Muzaffer Polat   +3 more
doaj   +1 more source

Stabilization of hen egg white lysozyme by a cavity‐filling mutation [PDF]

Protein Science, 2001
AbstractStabilization of a protein using cavity‐filling strategy has hardly been successful because of unfavorable van der Waals contacts. We succeeded in stabilizing lysozymes by cavity‐filling mutations. The mutations were checked by a simple energy minimization in advance.
T, Ohmura, T, Ueda, K, Ootsuka, M, Saito, T, Imoto   +4 more
openaire   +2 more sources

A methionine‐lined active site governs carbocation stabilization and product specificity in a bacterial terpene synthase

FEBS Letters, EarlyView.
This study reveals a unique active site enriched in methionine residues and demonstrates that these residues play a critical role by stabilizing carbocation intermediates through novel sulfur–cation interactions. Structure‐guided mutagenesis further revealed variants with significantly altered product profiles, enhancing pseudopterosin formation. These
Marion Ringel, Carl P. O. Helmer, Shani Zev, Ronja Driller, Emily Buhr, Markus Reinbold, Renana Schwartz, Gabriel Foley, Mikael Boden, Daniel Garbe, Gerhard Schenk, Dan Thomas Major, Bernhard Loll, Thomas Brück   +13 more
wiley   +1 more source

Evidence for detrimental cross interactions between reactive oxygen and nitrogen species in Leber's hereditary optic neuropathy cells [PDF]

, 2015
Here we have collected evidence suggesting that chronic changes in the NO homeostasis and the rise of reactive oxygen species bioavailability can contribute to cell dysfunction in Leber’s hereditary optic neuropathy (LHON) patients.We report that ...
Arese, Marzia, Buscarinu, Maria Chiara, Chessa, Luciana, Coarelli, Giulia, Falabella, Micol, Forte, Elena, Giuffre', Alessandro, Magnifico, MARIA CHIARA, Mechelli, Rosella, Radić, Kristina, Salvetti, Marco, Santini, Paolo, Sarti, Paolo   +12 more
core   +4 more sources

Cytoplasmic p21 promotes stemness of colon cancer cells via activation of the NFκB pathway

Molecular Oncology, EarlyView.
Cytoplasmic p21 promotes colorectal cancer stem cell (CSC) features by destabilizing the NFκB–IκB complex, activating NFκB signaling, and upregulating BCL‐xL and COX2. In contrast to nuclear p21, cytoplasmic p21 enhances spheroid formation and stemness transcription factor CD133.
Arnatchai Maiuthed, Kerstin Huebner, Katharina Erlenbach‐Wuensch, Chuanpit Hampel, Daniela Thalheim, Adriana Vial‐Roehe, Bodee Nutho, Susanne Merkel, Arndt Hartmann, Pithi Chanvorachote, Regine Schneider‐Stock   +10 more
wiley   +1 more source

A possible dominant white gene in Jersey cattle

Genetics Selection Evolution, 2001
A white heifer ("Snow") was born in 1991 from coloured registered Jersey parents. She produced six calves sired by coloured Jersey bulls: three white bull calves, two white heifer calves, and one coloured bull calf. One of the white bull calves was mated
Sponenberg D Phillip, Morris Chris A
doaj   +1 more source

A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle. [PDF]

PLoS ONE, 2011
A dominantly inherited syndrome associated with hypopigmentation, heterochromia irides, colobomatous eyes and bilateral hearing loss has been ascertained in Fleckvieh cattle (German White Fleckvieh syndrome).
Ute Philipp, Bettina Lupp, Stefanie Mömke, Veronika Stein, Andrea Tipold, Johanna Corinna Eule, Jürgen Rehage, Ottmar Distl   +7 more
doaj   +1 more source

Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients [PDF]

, 2019
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes.
Boarini, Manila, Celli, Mauro, Corsini, Serena, D'Eufemia, Patrizia, Gnoli, Maria, Maioli, Margherita, Mordenti, Marina, Pedrini, Elena, Sangiorgi, Luca, Tremosini, Morena, Versacci, Paolo, Zambrano, Anna   +11 more
core   +1 more source

White matter involvement in a family with a novel PDGFB mutation [PDF]

Neurology Genetics, 2016
Primary familial brain calcification (PFBC) (formerly idiopathic basal ganglia calcification; Fahr disease) is an autosomal dominant cerebral microvascular calcifying disorder with variable clinical and imaging features.(1) Four causative genes have been identified: SLC20A2,(2) PDGFRB,(3) PDGFB,(4) and XPR1.(5).
BIANCHERI, ROBERTA, Severino, Mariasavina, Robbiano, Angela, IACOMINO, MICHELE, DEL SETTE, MASSIMO, MINETTI, CARLO, Cervasio, Mariarosaria, Del Basso De Caro, Marialaura, STRIANO, PASQUALE, ZARA, FEDERICO   +9 more
openaire   +3 more sources