Giulia Barcia Selected Research

Proteins (Proteins, Gene)

11/2021

Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

Giulia Barcia Research Topics

Disease

5	Epilepsy (Aura) 01/2023 - 04/2014
4	Brain Diseases (Brain Disorder) 01/2022 - 01/2014
3	Intellectual Disability (Idiocy) 01/2023 - 01/2019
3	Mitochondrial Diseases (Mitochondrial Disease) 01/2023 - 01/2021
3	Seizures (Absence Seizure) 09/2020 - 04/2014
2	Neurodevelopmental Disorders 01/2023 - 10/2022
2	Neoplasms (Cancer) 01/2023 - 01/2022
2	Deafness (Deaf Mutism) 01/2022 - 12/2018
2	Cardiomyopathies (Cardiomyopathy) 11/2021 - 12/2018
2	Atrophy 01/2018 - 04/2014
1	Metabolic Diseases (Metabolic Disease) 01/2023
1	Acute Liver Failure (Fulminant Hepatic Failure) 01/2023
1	Pelger-Huet Anomaly 10/2022
1	Drug Resistant Epilepsy 03/2022
1	Autistic Disorder (Autism) 01/2022
1	Lipodystrophy 01/2022
1	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy) 01/2021
1	Mitochondrial encephalopathy 01/2021
1	Leigh Disease (Leigh's Disease) 01/2021
1	Channelopathies 01/2021
1	Paraplegia (Spastic Paraplegia) 01/2021
1	Pontocerebellar Hypoplasia 11/2020
1	Hypoventilation 01/2020
1	Muscular Diseases (Myopathy) 01/2020
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2020
1	Lactic Acidosis 12/2018
1	Molybdenum cofactor deficiency 01/2016
1	Microcephaly 04/2014
1	Status Epilepticus (Complex Partial Status Epilepticus) 05/2012
1	Posterior Leukoencephalopathy Syndrome 05/2012

Drug/Important Bio-Agent (IBA)

3	Mitochondrial DNA (mtDNA)IBA 01/2023 - 01/2020
2	EnzymesIBA 01/2021 - 01/2020
2	Anticonvulsants (Antiepileptic Drugs)IBA 09/2020 - 01/2019
1	RNA Helicases (RNA Helicase)IBA 01/2023
1	ATPases Associated with Diverse Cellular ActivitiesIBA 01/2023
1	Cysteine (L-Cysteine)FDA Link 01/2023
1	Dichlorodiphenyl Dichloroethylene (DDE)IBA 01/2023
1	DNA (Deoxyribonucleic Acid)IBA 01/2023
1	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2023
1	ChromatinIBA 10/2022
1	GABA-A Receptors (GABA(A) Receptor)IBA 10/2022
1	Aminobutyrates (Aminobutyric Acid)IBA 10/2022
1	Exonucleases (3' 5' Exonuclease)IBA 01/2022
1	NucleotidesIBA 01/2022
1	Interferon Type IIBA 01/2022
1	Serine (L-Serine)FDA Link 01/2022
1	Adenosine Triphosphatases (ATPase)IBA 01/2022
1	Red DND-99IBA 01/2022
1	Phospholipids (Phosphatides)FDA LinkGeneric 01/2022
1	Proteins (Proteins, Gene)FDA Link 11/2021
1	Shaw Potassium ChannelsIBA 01/2021
1	Ion Channels (Ion Channel)IBA 01/2021
1	Phenylalanine-tRNA LigaseIBA 01/2021
1	Chelating AgentsIBA 11/2020
1	Phytic Acid (Inositol Hexaphosphate)IBA 11/2020
1	CannabidiolIBA 09/2020
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2020
1	LipidsIBA 01/2020
1	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2020
1	Quinidine (Chinidin)FDA LinkGeneric 12/2019
1	Lysine-tRNA LigaseIBA 12/2018
1	Protein Isoforms (Isoforms)IBA 12/2018
1	Calcium Channels (Calcium Channel)IBA 01/2018
1	Initiator Codon (Start Codon)IBA 01/2016
1	glutaminyl-tRNA synthetaseIBA 04/2014
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 04/2014
1	Carrier Proteins (Binding Protein)IBA 01/2014
1	Qa-SNARE Proteins (Syntaxin)IBA 01/2014

Therapy/Procedure

1	Genomic Medicine 03/2022
1	Noninvasive Ventilation 01/2020
1	Therapeutics 12/2019
1	Hematopoietic Stem Cell Transplantation 05/2012