Results 61 to 70 of about 717,864 (344)

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.
Tadahiro Ohmura, Minoru Saito, Keiichi Ootsuka, Taiji Imoto, Tadashi Ueda   +4 more
openaire   +3 more sources

Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy

FEBS Letters, EarlyView.
Spinal muscular atrophy (SMA) is a genetic disease affecting motor neurons. Individuals with SMA experience mitochondrial dysfunction and oxidative stress. The aim of the study was to investigate the effect of an antioxidant and neuroprotective substance, ergothioneine (ERGO), on an SMNΔ7 mouse model of SMA.
Francesca Cadile, Daniela Ratto, Giorgia Rastelli, Ottavia Eleonora Ferraro, Caterina Temporini, Sunil Kumar, Simona Boncompagni, Paola Rossi, Monica Canepari   +8 more
wiley   +1 more source

Diffusion tensor imaging of brain white matter in Huntington gene mutation individuals

Arquivos de Neuro-Psiquiatria
Objective To evaluate the role of the involvement of white matter tracts in huntingtin gene mutation patients as a potential biomarker of the progression of the disease. Methods We evaluated 34 participants (11 symptomatic huntingtin gene mutation, 12
Roberta Arb Saba, James H. Yared, Thomas M. Doring, Med Phys, Vanderci Borges, Henrique Ballalai Ferraz   +5 more
doaj   +1 more source

From lactation to malignancy: A comparison between healthy and cancerous breast gland at single‐cell resolution reveals new issues for tumorigenesis

FEBS Letters, EarlyView.
Single‐cell RNA sequencing reveals an opposite role of SLPI in basal tumors based on metastatic spread, along with shared activation of specific regulons in cancer cells and mature luminal lactocytes, as well as downregulation of MALAT1 and NEAT1 in the latter.
Pietro Ancona, Carlo M. Bergamini, Carlo Ferrari, Stefano Volinia, Nicoletta Bianchi   +4 more
wiley   +1 more source

Molecular lesions associated with white gene mutations induced by I-R hybrid dysgenesis in Drosophila melanogaster [PDF]

, 1984
We have identified molecular lesions associated with six mutations, w(IR2) and w(IR4-8), of the white gene of Drosophila melanogaster. These mutations arose in flies subject to I-R hybrid dysgenesis.
Bucheton, A, Finnegan, David, Pelisson, A, Sang, Helen   +3 more
core   +1 more source

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus [PDF]

, 2003
BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist.
Inglehearn, C.F., Jafri, H., McKibbin, M.A., Mohamed, M.D., Raashed, Y., Topping, N.C   +5 more
core   +1 more source

Somatic mutations of esophageal adenocarcinoma: a comparison between Black and White patients

Scientific Reports, 2023
Abstract Esophageal adenocarcinoma is the most common histological subtype of esophageal cancer in Western countries and shows poor prognosis with rapid growth. EAC is characterized by a strong male predominance and racial disparity. EAC is up to five-fold more common among Whites than Blacks, yet Black patients with EAC have poorer survival ...
Lim, Hyeyeun, Gingras, Marie-Claude, Zhao, Jing, Byun, Jinyoung, Castro, Patricia D, Tsavachidis, Spiridon, Hu, Jianhong, Doddapaneni, Harshavardhan, Han, Yi, Muzny, Donna M, Gibbs, Richard A, Amos, Christopher I, Thrift, Aaron P   +12 more
openaire   +4 more sources

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

Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. [PDF]

, 2017
Here, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in threespine sticklebacks (Gasterosteus aculeatus).
Hart, James C, Miller, Craig T
core   +2 more sources

Linked dimers of the AAA+ ATPase Msp1 reveal energetic demands and mechanistic plasticity for substrate extraction from lipid bilayers

FEBS Letters, EarlyView.
Cells must clear mislocalized or faulty proteins from membranes to survive. The AAA+ ATPase Msp1 performs this task, but dissecting how its six subunits work together is challenging. We engineered linked dimers with varied numbers of functional subunits to reveal how Msp1 subunits cooperate and use energy to extract proteins from the lipid bilayer ...
Deepika Gaur, Brian Acquaviva, Baylee A. Smith, Nathan Walker, Isabella Walter, Matthew L. Wohlever   +5 more
wiley   +1 more source