Results 211 to 220 of about 259,716 (267)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

open access: yesAnnals 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   +11 more
wiley   +1 more source

Protein folding: Funnel model revised. [PDF]

open access: yesComput Struct Biotechnol J
Roterman I, Slupina M, Konieczny L.
europepmc   +1 more source

Topological determinants in protein folding dynamics: a comparative analysis of metamorphic proteins. [PDF]

open access: yesBiol Direct
Toso J   +5 more
europepmc   +1 more source

G-quadruplexes catalyze protein folding by reshaping the energetic landscape. [PDF]

open access: yesProc Natl Acad Sci U S A
Huang Z, Ghosh K, Stull F, Horowitz S.
europepmc   +1 more source

Protein folding

Quarterly Reviews of Biophysics, 1977
This review describes recent advances in studies on the stabilities of the three-dimensional structures of proteins and on the processes leading to the formation of these structures. The term ‘protein folding’ will be used here to denote the process of the conversion of an open polypeptide chain into the unique three-dimensional conformation of the ...
G, Némethy, H A, Scheraga
openaire   +2 more sources

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