Functional and pathological relevance of HERC family proteins: a decade later

S Sánchez-Tena, M Cubillos-Rojas… - Cellular and Molecular …, 2016 - Springer
The HERC gene family encodes proteins with two characteristic domains in their sequence:
the HECT domain and the RCC1-like domain (RLD). In humans, the HERC family comprises …

Galectin-3, a novel endogenous TREM2 ligand, detrimentally regulates inflammatory response in Alzheimer's disease

A Boza-Serrano, R Ruiz, R Sanchez-Varo… - Acta …, 2019 - Springer
Alzheimer's disease (AD) is a progressive neurodegenerative disease in which the
formation of extracellular aggregates of amyloid beta (Aβ) peptide, fibrillary tangles of …

ARG1-expressing microglia show a distinct molecular signature and modulate postnatal development and function of the mouse brain

V Stratoulias, R Ruiz, S Kanatani, AM Osman… - Nature …, 2023 - nature.com
Molecular diversity of microglia, the resident immune cells in the CNS, is reported. Whether
microglial subsets characterized by the expression of specific proteins constitute subtypes …

Implications of FBXW7 in neurodevelopment and neurodegeneration: molecular mechanisms and therapeutic potential

Y Yang, X Zhou, X Liu, R Song, Y Gao… - Frontiers in Cellular …, 2021 - frontiersin.org
The ubiquitin-proteasome system (UPS) mediated protein degradation is crucial to maintain
quantitive and functional homeostasis of diverse proteins. Balanced cellular protein …

Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes

L Skotte, J Fadista, J Bybjerg-Grauholm, V Appadurai… - Brain, 2022 - academic.oup.com
Febrile seizures represent the most common type of pathological brain activity in young
children and are influenced by genetic, environmental and developmental factors. In a …

Circular RNAs as potential blood biomarkers in amyotrophic lateral sclerosis

A Dolinar, B Koritnik, D Glavač… - Molecular neurobiology, 2019 - Springer
Circular RNAs (circRNAs) are emerging as a novel, yet powerful player in many human
diseases. They are involved in several cellular processes and are becoming a noteworthy …

[HTML][HTML] The HERC proteins and the nervous system

EM Pérez-Villegas, R Ruiz, S Bachiller… - Seminars in cell & …, 2022 - Elsevier
The HERC protein family is one of three subfamilies of Homologous to E6AP C-terminus
(HECT) E3 ubiquitin ligases. Six HERC genes have been described in humans, two of which …

The ubiquitin proteasome system in neuromuscular disorders: moving beyond movement

S Bachiller, IM Alonso-Bellido, LM Real… - International Journal of …, 2020 - mdpi.com
Neuromuscular disorders (NMDs) affect 1 in 3000 people worldwide. There are more than
150 different types of NMDs, where the common feature is the loss of muscle strength. These …

HERCing: structural and functional relevance of the large HERC ubiquitin ligases

J García-Cano, A Martinez-Martinez… - Frontiers in …, 2019 - frontiersin.org
Homologous to the E6AP carboxyl terminus (HECT) and regulator of chromosome
condensation 1 (RCC1)-like domain-containing proteins (HERCs) belong to the superfamily …

Diagnostic yield of whole‐exome sequencing in non‐syndromic intellectual disability

EZ Taşkıran, B Karaosmanoğlu… - Journal of …, 2021 - Wiley Online Library
Background Aetiological diagnosis in non‐syndromic intellectual disability (NSID) still poses
a diagnostic challenge to clinicians. Methods Screening is currently achieved by …