Enza Ferrero
Turin, 10126, Italy
Last Updated: 09/26/2026
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Found 16 publications
The ELOVL proteins: Very and ultra long-chain fatty acids at the crossroads between metabolic and neurodegenerative disorders.
Journal: Molecular genetics and metabolism
Published: December 11, 2024
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
Journal: HGG advances
Published: December 06, 2023
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
Journal: Human genetics
Published: February 22, 2023
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.
Journal: European journal of human genetics : EJHG
Published: October 18, 2022
CD157 signaling promotes survival of acute myeloid leukemia cells and modulates sensitivity to cytarabine through regulation of anti-apoptotic Mcl-1.
Journal: Scientific reports
Published: July 28, 2021
CD157: From Myeloid Cell Differentiation Marker to Therapeutic Target in Acute Myeloid Leukemia.
Journal: Cells
Published: October 24, 2019
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
Journal: Neurobiology of disease
Published: July 26, 2018
A phylogenetic view of the leukocyte ectonucleotidases.
Journal: Immunology letters
Published: May 28, 2018
Human canonical CD157/Bst1 is an alternatively spliced isoform masking a previously unidentified primate-specific exon included in a novel transcript.
Journal: Scientific reports
Published: August 11, 2017
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).
Journal: Human molecular genetics
Published: December 30, 2014
Last Updated: 09/26/2026