Antonella Spinazzola Selected Research

Proteins (Proteins, Gene)

3/2021	Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
1/2020	Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
1/2018	LETM1 couples mitochondrial DNA metabolism and nutrient preference.
1/2014	Amino acid starvation has opposite effects on mitochondrial and cytosolic protein synthesis.
5/2006	Systematic identification of human mitochondrial disease genes through integrative genomics.

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Antonella Spinazzola Research Topics

Disease

12	Mitochondrial Diseases (Mitochondrial Disease) 01/2020 - 11/2002
5	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2020 - 12/2004
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2024 - 05/2006
2	Fibrosis (Cirrhosis) 01/2022 - 01/2009
2	Parkinsonian Disorders (Parkinsonism) 12/2019 - 10/2019
1	Hypercholesterolemia 01/2024
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2024
1	Hypertrophy 01/2022
1	COVID-19 01/2022
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 03/2021
1	Late Onset Disorders 01/2020
1	Paresis (Hemiparesis) 01/2020
1	Ataxia (Dyssynergia) 10/2019
1	Spastic Paraplegia Type 7 10/2019
1	Neoplasms (Cancer) 10/2019
1	Hereditary Spastic Paraplegia 10/2019
1	AIDS-Related Complex (ARC) 11/2018
1	Wolf-Hirschhorn Syndrome 01/2018
1	Cerebellar Diseases (Cerebellar Syndrome) 06/2017
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 06/2017
1	Neurodegenerative Diseases (Neurodegenerative Disease) 06/2017
1	Adenocarcinoma 11/2016
1	Rhabdomyosarcoma 11/2016
1	Genomic Instability 01/2016
1	Starvation 01/2014
1	MELAS Syndrome (Syndrome, MELAS) 05/2009
1	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 05/2009
1	Liver Diseases (Liver Disease) 01/2009
1	Hypoglycemia (Reactive Hypoglycemia) 01/2009
1	Navajo neurohepatopathy 04/2008
1	Ophthalmoplegia (External Ophthalmoplegia) 12/2004
1	Mitochondrial Myopathies (Mitochondrial Myopathy) 12/2004
1	Cytochrome-c Oxidase Deficiency 11/2002

Drug/Important Bio-Agent (IBA)

17	Mitochondrial DNA (mtDNA)IBA 01/2024 - 11/2002
5	Proteins (Proteins, Gene)FDA Link 03/2021 - 05/2006
3	DNA (Deoxyribonucleic Acid)IBA 10/2019 - 05/2006
2	CholesterolIBA 01/2024 - 06/2017
2	ribonuclease HIIBA 06/2017 - 01/2016
1	Deoxyglucose (2 Deoxy D glucose)IBA 01/2022
1	ProteomeIBA 01/2022
1	GMP ReductaseIBA 01/2020
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 10/2019
1	NucleoproteinsIBA 01/2018
1	triphosphoric acid (triphosphate)IBA 01/2016
1	Amino Acids FDA Link 01/2014
1	Ribosomal Proteins (Ribosomal Protein)IBA 07/2013
1	Glucose (Dextrose)FDA LinkGeneric 01/2009
1	Glucagon (Glukagon)FDA Link 01/2009
1	Asn Transfer RNAIBA 12/2004
1	Reactive Oxygen Species (Oxygen Radicals)IBA 09/2003

Therapy/Procedure

1	Ligation 10/2019
1	Liver Transplantation 01/2009