Francesc Palau Selected Research

Type 4A Charcot-Marie-Tooth disease

4/2015	Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy.
12/2010	Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.
4/2008	Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease.
2/2006	A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.
4/2005	GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
1/2004	Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes.

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Francesc Palau Research Topics

Disease

12	Friedreich Ataxia (Friedreich's Ataxia) 01/2022 - 08/2005
6	Type 4A Charcot-Marie-Tooth disease 04/2015 - 01/2004
5	Mitochondrial Diseases (Mitochondrial Disease) 01/2022 - 01/2009
5	Neuroblastoma 11/2021 - 04/2005
5	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 01/2015 - 01/2004
4	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2010 - 08/2005
3	Rare Diseases (Rare Disease) 01/2022 - 01/2011
3	Neuromuscular Diseases (Neuromuscular Disease) 04/2021 - 11/2013
3	Coenzyme Q10 Deficiency 01/2015 - 07/2006
3	Ataxia (Dyssynergia) 07/2010 - 11/2006
2	Parkinson Disease (Parkinson's Disease) 10/2021 - 01/2009
2	Cerebellar Ataxia (Dysmetria) 01/2019 - 07/2006
2	Type 2K Charcot-Marie-Tooth disease 04/2015 - 12/2010
2	Ataxia with vitamin E deficiency 09/2008 - 11/2006
1	Inborn Genetic Diseases (Disease, Hereditary) 06/2022
1	Neurodevelopmental Disorders 01/2022
1	Airway Obstruction (Choking) 01/2022
1	Starvation 01/2022
1	Megalencephaly 01/2022
1	Weight Gain 11/2021
1	Menkes Kinky Hair Syndrome (Menkes Disease) 01/2021
1	Occipital horn syndrome 01/2021
1	Epilepsy (Aura) 01/2020
1	Tics (Tic) 12/2019
1	Hartnup Disease 12/2019
1	Kearns-Sayre Syndrome 11/2018
1	Celiac Disease (Celiac Sprue) 01/2018
1	Inflammation (Inflammations) 01/2017
1	Carcinogenesis 01/2015
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 11/2013
1	X-Linked Genetic Diseases 11/2013
1	Glutathione synthetase deficiency 01/2013
1	Metabolic Diseases (Metabolic Disease) 08/2012
1	sideroblastic spinocerebellar ataxia Anemia 06/2011
1	Tomaculous neuropathy 06/2010
1	Type 4C Charcot-Marie-Tooth disease 12/2009
1	Hereditary Spastic Paraplegia 01/2009
1	Paralysis (Palsy) 11/2008
1	Peripheral Nervous System Diseases (PNS Diseases) 04/2008
1	autosomal recessive 1 Spinocerebellar ataxia 11/2006
1	Abetalipoproteinemia (Bassen Kornzweig Syndrome) 11/2006
1	Nervous System Diseases (Neurological Disorders) 01/2006
1	Neoplasms (Cancer) 02/2004
1	Myotonic Dystrophy (Dystrophia Myotonica) 02/2004
1	Basal Cell Carcinoma (Rodent Ulcer) 02/2004

Drug/Important Bio-Agent (IBA)

11	FrataxinIBA 01/2022 - 08/2005
8	Proteins (Proteins, Gene)FDA Link 01/2017 - 04/2005
5	CalciumIBA 01/2022 - 08/2013
4	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2022 - 01/2006
3	coenzyme Q10 (CoQ10)IBA 01/2015 - 07/2006
3	GDAP proteinIBA 12/2010 - 09/2003
2	Dopamine (Intropin)FDA LinkGeneric 10/2021 - 11/2018
2	Biological ProductsIBA 04/2021 - 01/2006
2	Biomarkers (Surrogate Marker)IBA 01/2018 - 10/2014
2	alpha-tocopherol transfer proteinIBA 09/2008 - 11/2006
2	Pharmaceutical PreparationsIBA 11/2006 - 01/2006
2	GangliosidesIBA 02/2006 - 01/2004
1	Protein SIBA 06/2022
1	Fetal Hemoglobin (Hemoglobin F)IBA 01/2022
1	LipidsIBA 01/2022
1	AntioxidantsIBA 11/2021
1	florfenicolIBA 11/2021
1	Anti-Bacterial Agents (Antibiotics)IBA 11/2021
1	mitoquinoneIBA 11/2021
1	Reactive Oxygen Species (Oxygen Radicals)IBA 11/2021
1	RNA (Ribonucleic Acid)IBA 04/2021
1	Copper Transport ProteinsIBA 01/2021
1	Carisoprodol (Soma)FDA LinkGeneric 01/2021
1	Laminin (Merosin)IBA 01/2020
1	Niacin (Nicotinic Acid)FDA LinkGeneric 12/2019
1	Phosphodiesterase InhibitorsIBA 01/2019
1	Mitochondrial DNA (mtDNA)IBA 11/2018
1	Biogenic Amines (Biogenic Amine)IBA 11/2018
1	PterinsIBA 11/2018
1	Folic Acid (Vitamin M)FDA LinkGeneric 11/2018
1	Membrane LipidsIBA 01/2017
1	junctophilinIBA 01/2015
1	Histones (Histone)IBA 01/2015
1	DystrophinIBA 11/2013
1	Glutathione Synthase (Glutathione Synthetase)IBA 01/2013
1	Glutathione (Reduced Glutathione)IBA 01/2013
1	EnzymesIBA 01/2013
1	Pyroglutamate Hydrolase (5 Oxoprolinase)IBA 01/2013
1	Complement System Proteins (Complement)IBA 08/2012
1	ATP-Binding Cassette Transporters (ABC Transporters)IBA 06/2011
1	Coenzymes (Enzyme Cofactors)IBA 07/2010
1	UbiquinoneIBA 07/2010
1	Myelin ProteinsIBA 06/2010
1	Riboflavin (Vitamin B2)FDA LinkGeneric 01/2010
1	IronIBA 01/2009
1	ApolipoproteinsIBA 09/2008
1	Vitamin E FDA LinkGeneric 09/2008
1	A-Form DNA (A-DNA)IBA 11/2006
1	4-hydroxybenzoic acid (p-hydroxybenzoate)IBA 07/2006
1	prenylIBA 07/2006
1	AntibodiesIBA 04/2005
1	Myotonin-Protein KinaseIBA 02/2004

Therapy/Procedure

5	Therapeutics 01/2022 - 01/2009
1	Operative Surgical Procedures 01/2022
1	Precision Medicine 03/2012