The role of the Golgi apparatus in disease

J Liu, Y Huang, T Li, Z Jiang… - … journal of molecular …, 2021 - spandidos-publications.com
The Golgi apparatus is known to underpin many important cellular homeostatic functions,
including trafficking, sorting and modifications of proteins or lipids. These functions are …

Next-generation sequencing strategies

SE Levy, BE Boone - Cold Spring Harbor …, 2019 - perspectivesinmedicine.cshlp.org
More than a decade ago, the term “next-generation” sequencing was coined to describe
what was, at the time, revolutionary new methods to sequence RNA and DNA at a faster …

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

A Lepelley, MJ Martin-Niclós, M Le Bihan… - Journal of Experimental …, 2020 - rupress.org
Heterozygous missense mutations in coatomer protein subunit α, COPA, cause a syndrome
overlap** clinically with type I IFN-mediated disease due to gain-of-function in STING, a …

Deficiency in coatomer complex I causes aberrant activation of STING signalling

A Steiner, K Hrovat-Schaale, I Prigione, CH Yu… - Nature …, 2022 - nature.com
Coatomer complex I (COPI) mediates retrograde vesicular trafficking from Golgi to the
endoplasmic reticulum (ER) and within Golgi compartments. Deficiency in subunit alpha …

STING-mediated lung inflammation and beyond

ML Frémond, YJ Crow - Journal of clinical immunology, 2021 - Springer
Mendelian autoinflammatory diseases characterized by constitutive activation of the type I
interferon pathway, the so-called type I interferonopathies, constitute a rapidly expanding …

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

GA Arnadottir, GL Norddahl, S Gudmundsdottir… - Nature …, 2018 - nature.com
Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are
recognized to cause chronic granulomatous disease (CGD), a severe primary …

Coatopathies: genetic disorders of protein coats

EC Dell'Angelica, JS Bonifacino - Annual review of cell and …, 2019 - annualreviews.org
Protein coats are supramolecular complexes that assemble on the cytosolic face of
membranes to promote cargo sorting and transport carrier formation in the endomembrane …

[HTML][HTML] RNA editing mediates the functional switch of COPA in a novel mechanism of hepatocarcinogenesis

Y Song, O An, X Ren, THM Chan, DJT Tay, SJ Tang… - Journal of …, 2021 - Elsevier
Background & Aims RNA editing introduces nucleotide changes in RNA sequences. Recent
studies have reported that aberrant adenosine-to-inosine RNA editing is implicated in …

An update on autoinflammatory diseases: interferonopathies

S Davidson, A Steiner, CR Harapas… - Current rheumatology …, 2018 - Springer
Abstract Purpose of Review Type I interferons (IFNαβ) induce the expression of hundreds of
genes; thus, it is unsurprising that the initiation, transmission, and resolution of the IFNαβ …

Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features

AM Taveira-DaSilva, TC Markello, DE Kleiner… - Journal of medical …, 2019 - jmg.bmj.com
Background Copa syndrome is a rare autosomal dominant disorder with abnormal
intracellular vesicle trafficking. The objective of this work is to expand the knowledge about …