UFMylation: a ubiquitin-like modification
X Zhou, SJ Mahdizadeh, M Le Gallo… - Trends in Biochemical …, 2024 - cell.com
Post-translational modifications (PTMs) add a major degree of complexity to the proteome
and are essential controllers of protein homeostasis. Amongst the hundreds of PTMs …
and are essential controllers of protein homeostasis. Amongst the hundreds of PTMs …
The UFM1 system: Working principles, cellular functions, and pathophysiology
Summary Ubiquitin-fold modifier 1 (UFM1) is a ubiquitin-like protein covalently conjugated
with intracellular proteins through UFMylation, a process similar to ubiquitylation. Growing …
with intracellular proteins through UFMylation, a process similar to ubiquitylation. Growing …
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 …
what was, at the time, revolutionary new methods to sequence RNA and DNA at a faster …
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 …
recognized to cause chronic granulomatous disease (CGD), a severe primary …
A guide to UFMylation, an emerging posttranslational modification
Ubiquitin Fold Modifier‐1 (UFM1) is a ubiquitin‐like modifier (UBL) that is posttranslationally
attached to lysine residues on substrates via a dedicated system of enzymes conserved in …
attached to lysine residues on substrates via a dedicated system of enzymes conserved in …
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
SM Papuc, L Abela, K Steindl, A Begemann… - European journal of …, 2019 - nature.com
Early-onset epileptic encephalopathy (EE) and combined developmental and epileptic
encephalopathies (DEE) are clinically and genetically heterogeneous severely devastating …
encephalopathies (DEE) are clinically and genetically heterogeneous severely devastating …
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays
Protein UFMylation downstream of the E1 enzyme UBA5 plays essential roles in
development and endoplasmic reticulum stress. Variants in the UBA5 gene are associated …
development and endoplasmic reticulum stress. Variants in the UBA5 gene are associated …
The expanding spectrum of movement disorders in genetic epilepsies
A Papandreou, FR Danti, R Spaull… - … Medicine & Child …, 2020 - Wiley Online Library
An ever‐increasing number of neurogenetic conditions presenting with both epilepsy and
atypical movements are now recognized. These disorders within the 'genetic epilepsy …
atypical movements are now recognized. These disorders within the 'genetic epilepsy …
Indispensable role of the Ubiquitin-fold modifier 1-specific E3 ligase in maintaining intestinal homeostasis and controlling gut inflammation
Y Cai, G Zhu, S Liu, Z Pan, M Quintero, CJ Poole, C Lu… - Cell Discovery, 2019 - nature.com
Intestinal exocrine secretory cells, including Paneth and goblet cells, have a pivotal role in
intestinal barrier function and mucosal immunity. Dysfunction of these cells may lead to the …
intestinal barrier function and mucosal immunity. Dysfunction of these cells may lead to the …
Highly specialized ubiquitin-like modifications: shedding light into the UFM1 enigma
KF Witting, MPC Mulder - Biomolecules, 2021 - mdpi.com
Post-translational modification with Ubiquitin-like proteins represents a complex signaling
language regulating virtually every cellular process. Among these post-translational …
language regulating virtually every cellular process. Among these post-translational …