Roberto Colombo Selected Research

mitochondria ATP-Mg-Pi carrier proteins

12/2021

Exome sequencing identifies a disease variant of the mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones.

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Roberto Colombo Research Topics

Disease

8	Stroke (Strokes) 01/2021 - 02/2004
3	Bipolar Disorder (Manic Depressive Psychosis) 05/2020 - 12/2010
2	Mental Disorders (Mental Disorder) 01/2021 - 01/2010
2	Parkinson Disease (Parkinson's Disease) 01/2021 - 07/2011
2	Infections 01/2019 - 10/2007
2	Intellectual Disability (Idiocy) 03/2017 - 01/2017
2	Chanarin-Dorfman Syndrome 12/2010 - 09/2008
2	Alzheimer Disease (Alzheimer's Disease) 03/2008 - 03/2003
2	Tay-Sachs Disease 03/2004 - 02/2004
2	Chronic Kidney Failure (Chronic Renal Failure) 12/2003 - 03/2003
1	Obesity 03/2022
1	Vitamin D Deficiency 03/2022
1	Melanoma (Melanoma, Malignant) 03/2022
1	Kidney Calculi (Kidney Stone) 12/2021
1	Cognitive Dysfunction 01/2021
1	Deglutition Disorders (Dysphagia) 01/2021
1	Speech Disorders (Cluttering) 01/2021
1	Hypokinesia (Bradykinesia) 01/2021
1	Paresis (Hemiparesis) 01/2021
1	Depressive Disorder (Melancholia) 01/2021
1	Major Depressive Disorder (Major Depressive Disorders) 01/2021
1	Neurodevelopmental Disorders 11/2020
1	Dystonia (Limb Dystonia) 11/2020
1	Meningioma (Meningiomas) 01/2020
1	Inborn Genetic Diseases (Disease, Hereditary) 12/2019
1	Arthrogryposis 12/2019
1	Hypermethioninemia 06/2019
1	Pain (Aches) 01/2019
1	Prostatitis 01/2019
1	Pelvic Pain 01/2019
1	Aortic Diseases 01/2019
1	Muscle Hypotonia (Hypotonia) 01/2019
1	Deafness (Deaf Mutism) 01/2019
1	Eczema 01/2018
1	Sialorrhea 12/2017
1	Pathologic Constriction (Stenosis) 06/2017
1	Atherosclerosis 06/2017
1	Neuroblastoma 03/2017
1	Microcephaly 03/2017
1	Insulin Resistance 01/2017
1	Hyperammonemia 01/2017

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 05/2020 - 03/2003
2	ElementsIBA 03/2022 - 09/2013
2	EnzymesIBA 11/2020 - 02/2004
2	Oxygen (Dioxygen)IBA 04/2006 - 03/2006
2	Glutathione Disulfide (GSSG)FDA LinkGeneric 10/2004 - 12/2003
1	Vitamin D FDA LinkGeneric 03/2022
1	Docosahexaenoic AcidsIBA 03/2022
1	Melanins (Melanin)IBA 03/2022
1	Hematoxylin (Haematoxylon)IBA 03/2022
1	Complement System Proteins (Complement)IBA 03/2022
1	Eosine Yellowish-(YS) (Eosin)IBA 03/2022
1	CalciumIBA 12/2021
1	mitochondria ATP-Mg-Pi carrier proteinsIBA 12/2021
1	Antidepressive Agents (Antidepressants)IBA 01/2021
1	Biological ProductsIBA 01/2021
1	purineIBA 11/2020
1	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 01/2020
1	Factor VII (Proconvertin)IBA 01/2020
1	Lipoproteins (Lipoprotein)IBA 12/2019
1	LDL Receptors (LDL Receptor)IBA 12/2019
1	Methionine (L-Methionine)FDA Link 06/2019
1	AminoglycosidesIBA 01/2019
1	anandamide (arachidonylethanolamide)IBA 01/2019
1	Third Generation CephalosporinsIBA 01/2019
1	Analgesics (Analgesic Drugs)IBA 01/2019
1	Non-Steroidal Anti-Inflammatory Agents (NSAIDs)IBA 01/2019
1	Anti-Bacterial Agents (Antibiotics)IBA 01/2019
1	CannabinoidsIBA 01/2019
1	Pharmaceutical PreparationsIBA 01/2019
1	Fosfomycin FDA Link 01/2019
1	Penicillins (Penicillin)FDA Link 01/2019
1	TetracyclinesIBA 01/2019
1	QuinolonesIBA 01/2019
1	MacrolidesIBA 01/2019
1	FluoroquinolonesIBA 01/2019
1	tacrolimus binding protein 5IBA 01/2019
1	OligosaccharidesIBA 01/2019
1	Myosin-Light-Chain KinaseIBA 01/2019
1	Phosphotransferases (Kinase)IBA 01/2019
1	Immunoglobulin E (IgE)IBA 01/2018
1	Chromogranin AIBA 06/2017
1	Indicators and Reagents (Reagents)IBA 06/2017
1	vasostatin IIBA 06/2017
1	Peptides (Polypeptides)IBA 06/2017
1	Factor XIII (Coagulation Factor XIII)IBA 03/2017
1	RNA (Ribonucleic Acid)IBA 03/2017
1	TATA-Box Binding Protein (TATA-Binding Protein)IBA 03/2017
1	Carrier Proteins (Binding Protein)IBA 01/2017
1	Insulin (Novolin)FDA Link 01/2017
1	Oroticaciduria 1IBA 01/2017

Therapy/Procedure

5	Therapeutics 01/2019 - 04/2009
3	Neurological Rehabilitation 09/2012 - 09/2005
2	Activities of Daily Living (ADL) 01/2021 - 09/2013
2	Physical Therapy Modalities (Physical Therapy Technique) 02/2007 - 09/2005
1	Telerehabilitation 01/2021
1	Phytotherapy (Herbal Therapy) 01/2019
1	Intravenous Administration 01/2019
1	Hearing Aids (Hearing Aid) 12/2017
1	Cochlear Implants (Cochlear Implant) 12/2017