Copa syndrome: a novel autosomal dominant immune dysregulatory disease

TJ Vece, LB Watkin, SK Nicholas, D Canter… - Journal of clinical …, 2016 - Springer
Inherently defective immunity typically results in either ineffective host defense, immune
regulation, or both. As a category of primary immunodeficiency diseases, those that impair …

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

LB Watkin, B Jessen, W Wiszniewski, TJ Vece, M Jan… - Nature …, 2015 - nature.com
Unbiased genetic studies have uncovered surprising molecular mechanisms in human
cellular immunity and autoimmunity. We performed whole-exome sequencing and targeted …

Regulation of autophagy and mitophagy by nutrient availability and acetylation

BR Webster, I Scott, J Traba, K Han, MN Sack - Biochimica et Biophysica …, 2014 - Elsevier
Normal cellular function is dependent on a number of highly regulated homeostatic
mechanisms, which act in concert to maintain conditions suitable for life. During periods of …

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

WL Macken, A Godwin, G Wheway, K Stals… - Genome Medicine, 2021 - Springer
Background Coat protein complex 1 (COPI) is integral in the sorting and retrograde
trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic reticulum (ER) …

RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy

N Spang, A Feldmann, H Huesmann, F Bekbulat… - Autophagy, 2014 - Taylor & Francis
Macroautophagy is a degradative pathway that sequesters and transports cytosolic cargo in
autophagosomes to lysosomes, and its deterioration affects intracellular proteostasis …

Secreted protein markers in oral squamous cell carcinoma (OSCC)

M Mumtaz, IV Bijnsdorp, F Böttger, SR Piersma… - Clinical proteomics, 2022 - Springer
Background Oral squamous cell carcinoma (OSCC) is a main cause of oral cancer mortality
and morbidity in central south Asia. To improve the clinical outcome of OSCC patients …

Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly

A DiStasio, A Driver, K Sund, M Donlin… - Human Molecular …, 2017 - academic.oup.com
Primary microcephaly is a congenital brain malformation characterized by a head
circumference less than three standard deviations below the mean for age and sex and …

COPI-regulated mitochondria-ER contact site formation maintains axonal integrity

DC Maddison, B Malik, L Amadio, DM Bis-Brewer… - Cell Reports, 2023 - cell.com
Coat protein complex I (COPI) is best known for its role in Golgi-endoplasmic reticulum (ER)
trafficking, responsible for the retrograde transport of ER-resident proteins. The ER is crucial …

CaMKK2 facilitates Golgi-associated vesicle trafficking to sustain cancer cell proliferation

LM Stewart, L Gerner, M Rettel, F Stein… - Cell death & …, 2021 - nature.com
Calcium/calmodulin-dependent protein kinase kinase 2 (CaMKK2) regulates cell and whole-
body metabolism and supports tumorigenesis. The cellular impacts of perturbing CAMKK2 …

[PDF][PDF] Origanum majorana Ethanolic Extract Promotes Colorectal Cancer Cell Death by Triggering Abortive Autophagy and Activation of the Extrinsic Apoptotic …

N Benhalilou, H Alsamri, A Alneyadi… - Frontiers in …, 2019 - frontiersin.org
Colorectal cancer is considered as the third leading cause of cancer death. In the present
study, we investigated the potential anticancer effect and the molecular mechanism of …