The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families

G Al-Kasbi, F Al-Murshedi, A Al-Kindi, N Al-Hashimi… - Scientific Reports, 2022 - nature.com
Abstract Global Developmental Delay/Intellectual disability (ID) is the term used to describe
various disorders caused by abnormal brain development and characterized by impairments …

Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics

R De Pace, R Maroofian, A Paimboeuf, M Zamani… - Brain, 2024 - academic.oup.com
BLOC-one-related complex (BORC) is a multiprotein complex composed of eight subunits
named BORCS1–8. BORC associates with the cytosolic face of lysosomes, where it …

The exocyst complex is an essential component of the mammalian constitutive secretory pathway

C Pereira, D Stalder, GSF Anderson… - Journal of Cell …, 2023 - rupress.org
Secreted proteins fulfill a vast array of functions, including immunity, signaling, and
extracellular matrix remodeling. In the trans-Golgi network, proteins destined for constitutive …

Recent selection and introgression facilitated high-altitude adaptation in cattle

Y Lyu, F Wang, H Cheng, J Han, R Dang, X Xia… - Science Bulletin, 2024 - Elsevier
During the past 3000 years, cattle on the Qinghai-Xizang Plateau have developed adaptive
phenotypes under the selective pressure of hypoxia, ultraviolet (UV) radiation, and extreme …

Regulation of yeast polarized exocytosis by phosphoinositide lipids

MW Volpiana, A Nenadic, CT Beh - Cellular and Molecular Life Sciences, 2024 - Springer
Phosphoinositides help steer membrane trafficking routes within eukaryotic cells. In
polarized exocytosis, which targets vesicular cargo to sites of polarized growth at the plasma …

CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment

DJ Smits, J Dekker, R Schot, B Tabarki, A Alhashem… - Human Genetics, 2023 - Springer
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 …

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors

D Alankarage, A Enriquez, RD Steiner, C Raggio… - Differentiation, 2022 - Elsevier
Myhre syndrome is a connective tissue disorder characterized by congenital cardiovascular,
craniofacial, respiratory, skeletal, and cutaneous anomalies as well as intellectual disability …

[HTML][HTML] Eukaryotic Initiation Translation Factor 2A activation by cannabidiolic acid alters the protein homeostasis balance in glioblastoma cells

ML Bellone, AA Syed, RM Vitale, G Sigismondo… - International Journal of …, 2024 - Elsevier
Abstract Eukaryotic Initiation Translation Factor 2A (EIF2A) is considered to be primarily
responsible for the initiation of translation when a cell is subjected to stressful conditions …

Exocyst-mediated membrane trafficking of the lissencephaly-associated ECM receptor dystroglycan is required for proper brain compartmentalization

AS Yatsenko, MM Kucherenko, Y Xie, H Urlaub… - Elife, 2021 - elifesciences.org
To assemble a brain, differentiating neurons must make proper connections and establish
specialized brain compartments. Abnormal levels of cell adhesion molecules disrupt these …

Effects of Long-Term Cryopreservation on the Transcriptomes of Giant Grouper Sperm

X Ding, Y Tian, Y Qiu, P Duan, X Wang, Z Li, L Li, Y Liu… - Genes, 2024 - mdpi.com
The giant grouper fish (Epinephelus lanceolatus), one of the largest and rarest groupers, is a
fast-growing economic fish. Grouper sperm is often used for cross-breeding with other fish …