Cristina Cerqua

Padova, Italy

Last Updated: 09/26/2026

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Found 14 publications

Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis.

Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis.

Journal: Heliyon
Published: June 19, 2024

The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation.

The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation.

Journal: International journal of molecular sciences
Published: January 24, 2022

Ambra1 deficiency impairs mitophagy in skeletal muscle.

Ambra1 deficiency impairs mitophagy in skeletal muscle.

Journal: Journal of cachexia, sarcopenia and muscle
Published: January 05, 2022

Vitamin K2 cannot substitute Coenzyme Q10 as electron carrier in the mitochondrial respiratory chain of mammalian cells.

Vitamin K2 cannot substitute Coenzyme Q10 as electron carrier in the mitochondrial respiratory chain of mammalian cells.

Journal: Scientific reports
Published: December 10, 2018

In mammalian skeletal muscle, phosphorylation of TOMM22 by protein kinase CSNK2/CK2 controls mitophagy.

In mammalian skeletal muscle, phosphorylation of TOMM22 by protein kinase CSNK2/CK2 controls mitophagy.

Journal: Autophagy
Published: November 23, 2017

COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2.

COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2.

Journal: Biochimica et biophysica acta. Bioenergetics
Published: September 13, 2017

Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.

Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.

Journal: Human mutation
Published: May 24, 2017

Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence.

Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence.

Journal: Cell metabolism
Published: August 16, 2016

A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome.

A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome.

Journal: European journal of human genetics : EJHG
Published: July 29, 2016

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.

Journal: European journal of human genetics : EJHG
Published: June 28, 2016

Coenzyme Q biosynthesis in health and disease.

Coenzyme Q biosynthesis in health and disease.

Journal: Biochimica et biophysica acta
Published: January 31, 2016

Genetics of coenzyme q10 deficiency.

Genetics of coenzyme q10 deficiency.

Journal: Molecular syndromology
Published: August 16, 2014
Showing 1-12 of 14

Last Updated: 09/26/2026