The primary cilium is a highly specialized and evolutionary conserved organelle in
eukaryotes that plays a significant role in cell signaling and trafficking. Over the past few …

Syndromic obesity refers to obesity occurring with additional clinical findings, such as
intellectual disability/developmental delay, dysmorphic features, and congenital …

The vacuolar protein sorting-associated protein 13B (VPS13B) is a large and highly
conserved protein. Disruption of VPS13B causes the autosomal recessive Cohen syndrome …

Magnaporthe oryzae (synonym Pyricularia oryzae) is a filamentous fungal pathogen that
causes major yield losses in cultivated rice worldwide. However, the mechanisms of …

CLEC16A is a membrane-associated C-type lectin protein that functions as a E3-ubiquitin
ligase. CLEC16A regulates autophagy and mitophagy, and reportedly localizes to late …

Obesity is a growing public health problem in many developed countries, although similar
trends are increasingly being described in some developing nations. The genetic …

Glycosylation is a critical post-translational modification that plays a pivotal role in several
biological processes, such as the immune response. Alterations in glycosylation can …

Autosomal recessive Cohen syndrome is a neurodevelopmental disorder characterized by
postnatal microcephaly, intellectual disability, and a typical facial gestalt. Genetic variants in …

We investigated whether a homozygous recessive genetic variant of NSF attachment protein
beta (NAPB) gene inherited by monozygotic triplets contributed to their phenotype of early …

This comprehensive review explores the physiological and pathophysiological significance
of VPS13A, a protein encoded by the VPS13A gene. The VPS13A gene is associated with …