Results 261 to 270 of about 72,098 (338)

The Crystal Structure of Human Transport and Golgi Organization 2 Homolog (TANGO2) Protein Reveals an αββα‐Fold Arrangement

open access: yesProteins: Structure, Function, and Bioinformatics, Volume 94, Issue 2, Page 515-528, February 2026.
ABSTRACT Transport and Golgi Organization 2 Homolog (TANGO2) protein deficiency disorder (TDD) is a rare autosomal recessive disorder characterized by multi‐systemic abnormalities and significant phenotypic variability including neurodevelopmental delay, seizures, intermittent ataxia, hypothyroidism, rhabdomyolysis, life‐threatening metabolic ...
Anne Cooper   +6 more
wiley   +1 more source

Temporal Dynamics of CNS Cholesterol Esters Correlate with Demyelination and Remyelination. [PDF]

open access: yesACS Chem Neurosci
De Silva Mohotti N   +7 more
europepmc   +1 more source

Development of a Pregnancy‐Specific Physiologically Based Pharmacokinetics (PBPK) Model for Aspirin

open access: yesCPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 2, February 2026.
ABSTRACT Aspirin is one of the most commonly used medications in pregnancy, particularly for the prevention of hypertensive disorders. Despite aspirin's widespread use in pregnancy for preeclampsia prevention, its pharmacokinetics (PK) across all trimesters remain poorly characterized, complicating optimal dosing recommendations. To develop a pregnancy‐
Ana Collins‐Smith   +5 more
wiley   +1 more source

Inflammasome Activation Aggravates Cutaneous Xanthomatosis and Atherosclerosis in ACAT1 (Acyl-CoA Cholesterol Acyltransferase 1) Deficiency in Bone Marrow

open access: hybrid, 2018
Tetsuji Wakabayashi   +10 more
openalex   +1 more source

HYPK‐Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features

open access: yesClinical Genetics, Volume 109, Issue 2, Page 352-355, February 2026.
We present the first published case of HYPK‐related neurodevelopmental disorder in a male proband with atypical facies, developmental delay, and autism spectrum disorder– like features. HYPK is a part of the NatA complex, like NAA10 and NAA15, with dysfunction leading to similar but milder features to those of Ogden Syndrome.
Rahi Patel   +10 more
wiley   +1 more source

Lecithin: Cholesterol Acyltransferase

open access: yesThe Journal of Japan Atherosclerosis Society, 1996
openaire   +2 more sources

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