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 …

The UFM1 system: Working principles, cellular functions, and pathophysiology

M Komatsu, T Inada, NN Noda - Molecular Cell, 2024 - cell.com
Summary Ubiquitin-fold modifier 1 (UFM1) is a ubiquitin-like protein covalently conjugated
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 …

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 …

A guide to UFMylation, an emerging posttranslational modification

D Millrine, JJ Peter, Y Kulathu - The FEBS Journal, 2023 - Wiley Online Library
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 …

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 …

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

X Pan, AN Alvarez, M Ma, S Lu, MW Crawford… - Elife, 2023 - elifesciences.org
Protein UFMylation downstream of the E1 enzyme UBA5 plays essential roles in
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 …

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 …

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 …