Mitophagy is a selective autophagic process, essential for cellular homeostasis, that
eliminates dysfunctional mitochondria. Activated by inner membrane depolarization, it plays …

Rho family guanosine triphosphatases (GTPases) regulate cellular signaling and
cytoskeletal dynamics, playing a pivotal role in cell adhesion, migration, and cell cycle …

An ever‐increasing number of neurogenetic conditions presenting with both epilepsy and
atypical movements are now recognized. These disorders within the 'genetic epilepsy …

Objective We aim to characterize the causality and molecular and functional underpinnings
of HACE1 deficiency in a mouse model of a recessive neurodevelopmental syndrome called …

Abstract Background Hereditary spastic paraplegias (HSPs) are a group of genetically
heterogeneous neurodegenerative disorders. Our objective was to determine the clinical …

Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1%–
3% of the general population. The number of ID-causing genes is high. Many X-linked …

Recessive HACE1 mutations are associated with a severe neurodevelopmental disorder
(OMIM: 616756). However, the physiopathologycal bases of the disease are yet to be …

A number of inherited ataxias is known in humans, with more than 250 loci implicated, most
of which are included in human ataxia screening panels. Anecdotally, cases of ataxia in the …

Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS, OMIM
616756) is a rare genetic disease caused by biallelic pathogenic variants in the HACE1 …

Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS) is a
complex neurodevelopmental disorder with an autosomal recessive inheritance. SPPRS …