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#protein folding Open access Oct 2026

CNPY3 variants associated with a recessive developmental and epileptic encephalopathy affect inflammasome and TLR function.

The authors' findings reveal separable effects on TLR trafficking, downstream signalling and inflammasome activation, identifying CNPY3 as a key regulator of multiple cellular pathways involved in inflammatory responses and neurodevelopment.

Vera Garloff, M. Grimmel, R. Maroofian et al. · 0 citations
Open access Sep 2026

The Psychosocial and Financial Challenges faced by Caregivers of Cancer Patients

Objective: To determine the psychosocial and economic burden of the caregivers of cancer patients. Study Design: Cross-sectional study. Place and Duration of Study: Department of Medical Oncology, PNS Shifa Hospital, Karachi Pakistan, from Jun to Dec 2025. Methodology: A total of 150 caregivers of cancer patients were...

U. Z. Farid, M. Umair, Laeba Binte Saleem et al. · 0 citations
Case report Open access Oct 2026

A Novel BORCS5 Loss-Of-Function Variant in a Patient With a Rare Neurodevelopmental Disorder.

BACKGROUND The BORCS5 is an important and critical component of the BLOC-one-related complex (BORC), involved in kinesin-dependent anterograde lysosomal transport. Aberrations in the octameric protein complex encompass lethal neurological manifestations, such as arthrogryposis multiplex congenita, brain malformations a...

Arif Mahmood, A. Shah, Gohar Zaman et al. · 0 citations

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