Claudia Compagnucci
Rome, 00165, Italy
Last Updated: 09/26/2026
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Found 47 publications
Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.
Journal: Molecular genetics and metabolism
Published: November 13, 2025
Altered dimerization of certain riboflavin transporter 2 mutants: a possible source of UPR, altered calcium signalling and mitochondrial derangements in RTD2.
Journal: Archives of biochemistry and biophysics
Published: May 16, 2025
Riboflavin transporter deficiency: AAV9-SLC52A2 gene therapy as a new therapeutic strategy.
Journal: Frontiers in cellular neuroscience
Published: November 06, 2024
Altered cytoskeleton dynamics in patient-derived iPSC-based model of PCDH19 clustering epilepsy.
Journal: Frontiers in cell and developmental biology
Published: October 28, 2024
ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation.
Journal: Cell reports
Published: October 24, 2024
Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes.
Journal: Frontiers in cellular neuroscience
Published: May 29, 2024
Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons
Journal: Cell death discovery
Published: August 01, 2023
Understanding the pathogenetic mechanisms underlying altered neuronal function associated with CAMK2B mutations.
Journal: Neuroscience and biobehavioral reviews
Published: April 13, 2023
CRISPR/Cas9 and piggyBac Transposon-Based Conversion of a Pathogenic Biallelic TBCD Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes.
Journal: International journal of molecular sciences
Published: March 07, 2023
Deciphering the Tubulin Language: Molecular Determinants and Readout Mechanisms of the Tubulin Code in Neurons.
Journal: International journal of molecular sciences
Published: November 26, 2022
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Journal: Human molecular genetics
Published: June 16, 2022
New Insights into the Neurodegeneration Mechanisms Underlying Riboflavin Transporter Deficiency (RTD): Involvement of Energy Dysmetabolism and Cytoskeletal Derangement.
Journal: Biomedicines
Published: April 14, 2022
Last Updated: 09/26/2026