Results 291 to 300 of about 2,258,474 (352)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Solution NMR backbone assignment of the N-terminal tandem Zα1-Zα2 domains of Z-DNA binding protein 1. [PDF]

Biomol NMR Assign
Beck LG, Krall JB, Nichols PJ, Vicens Q, Henen MA, Vögeli B.   +5 more
europepmc   +1 more source

Von Economo Neuron Loss in Frontotemporal Dementia: A Meta‐Analysis of Neuropathological Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Von Economo neurons (VENs) have been reported to be vulnerable to neurodegeneration in frontotemporal dementia (FTD), particularly the behavioral variant (bvFTD), but these findings have not been systematically assessed across independent brain banks.
Daniel Talmasov, Alexander F. Santillo, Patrick R. Hof   +2 more
wiley   +1 more source

Mitochondrial single-stranded DNA binding protein 1 (SSBP1) high expression as a potential biomarker and association with poor prognosis in hepatocellular carcinoma (HCC). [PDF]

Transl Cancer Res
Lin YR, Li JK, Yang X, Dong BR, Liu RA, Wang XM, Yu M, Xiong W.   +7 more
europepmc   +1 more source

Cytoplasmic expression of trans-active response DNA-binding protein-43 in aged mice display hippocampal sclerosis-like degeneration and neuronal loss with reduced lifespan. [PDF]

J Neuropathol Exp Neurol
Anderson AJ, Dopler MB, Arezoumandan S, Osei-Kankam D, Davis SA, Ajroud K, Lilek J, Bambakadis E, Shapiro R, Flanagan ME, Cairns NJ, Gitcho MA.   +11 more
europepmc   +1 more source

A winged-helix DNA-binding protein is essential for self-fertility during sexual development of the homothallic fungus Fusarium graminearum. [PDF]

mSphere
Park J, Jeon H, Hwangbo A, Min K, Ko J, Kim J-E, Kim S, Shin JY, Lee Y-H, Lee Y-W, Son H.   +10 more
europepmc   +1 more source

The evolution of sequence specificity in a DNA binding protein family

Nandy M, Krishnaswamy M, Sharda M, Seshasayee ASN.   +3 more
europepmc   +1 more source

Single-strand DNA-binding protein suppresses illegitimate recombination in Escherichia coli, acting in synergy with RecQ helicase. [PDF]

Sci Rep
Feliciello I, Ljubić S, Đermić E, Ivanković S, Zahradka D, Đermić D.   +5 more
europepmc   +1 more source

Navigating the pathways: TAR-DNA-binding-protein-43 aggregation, axonal transport, and local synthesis in amyotrophic lateral sclerosis pathology. [PDF]

Neural Regen Res
Bar Avi O, Perlson E.
europepmc   +1 more source

Repetitive Mild but Not Single Moderate Brain Trauma Is Associated with TAR DNA-Binding Protein 43 Mislocalization and Glial Activation in the Mouse Spinal Cord. [PDF]

Biomedicines
Janković T, Rajič Bumber J, Gržeta Krpan N, Dolenec P, Jaeger M, Kriz J, Župan G, Pilipović K.   +7 more
europepmc   +1 more source