Giuseppe Punzi

Bari, Italy

Last Updated: 09/26/2026

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Found 13 publications

Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas.

Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas.

Journal: The Journal of clinical investigation

Published: September 09, 2019

CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.

CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.

Journal: Human mutation

Published: December 07, 2018

Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.

Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.

Journal: American journal of human genetics

Published: September 20, 2018

Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.

Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.

Journal: American journal of human genetics

Published: August 21, 2018

SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.

SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.

Journal: Human molecular genetics

Published: October 03, 2017

Effect of cariporide on ram sperm pH regulation and motility: possible role of NHE1.

Effect of cariporide on ram sperm pH regulation and motility: possible role of NHE1.

Journal: Reproduction (Cambridge, England)

Published: July 25, 2017

Nitro-substituted tetrahydroindolizines and homologs: Design, kinetics, and mechanism of α-glucosidase inhibition.

Nitro-substituted tetrahydroindolizines and homologs: Design, kinetics, and mechanism of α-glucosidase inhibition.

Journal: Bioorganic & medicinal chemistry letters

Published: May 20, 2017

Identification of new highly selective inhibitors of the human ADP/ATP carriers by molecular docking and in vitro transport assays.

Identification of new highly selective inhibitors of the human ADP/ATP carriers by molecular docking and in vitro transport assays.

Journal: Biochemical pharmacology

Published: October 07, 2015

Molecular modeling of antibodies for the treatment of TNFα-related immunological diseases.

Molecular modeling of antibodies for the treatment of TNFα-related immunological diseases.

Journal: Pharmacology research & perspectives

Published: May 29, 2015

Pathogenic potential of SLC25A15 mutations assessed by transport assays and complementation of Saccharomyces cerevisiae ORT1 null mutant.

Pathogenic potential of SLC25A15 mutations assessed by transport assays and complementation of Saccharomyces cerevisiae ORT1 null mutant.

Journal: Molecular genetics and metabolism

Published: January 30, 2015

Distance-dependent hydrophobic-hydrophobic contacts in protein folding simulations.

Distance-dependent hydrophobic-hydrophobic contacts in protein folding simulations.

Journal: Physical chemistry chemical physics : PCCP

Published: August 02, 2014

A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein.

A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein.

Journal: Molecular genetics and metabolism

Published: February 04, 2014

Showing 1-12 of 13

Last Updated: 09/26/2026