Langping He Selected Research

Cytochrome-c Oxidase Deficiency

1/2018	Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.
1/2017	POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.
12/2015	LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
10/2015	Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.
7/2015	Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.
1/2014	Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
7/2012	MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.
7/2010	Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles.
3/2009	A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.

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Langping He Research Topics

Disease

17	Mitochondrial Diseases (Mitochondrial Disease) 01/2020 - 07/2002
9	Cytochrome-c Oxidase Deficiency 01/2018 - 03/2009
7	Muscular Diseases (Myopathy) 01/2019 - 01/2008
6	Cardiomyopathies (Cardiomyopathy) 01/2019 - 09/2012
4	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2020 - 09/2003
3	Leigh Disease (Leigh's Disease) 01/2020 - 06/2012
3	Ataxia (Dyssynergia) 01/2018 - 02/2008
3	Muscle Hypotonia (Hypotonia) 01/2018 - 09/2012
3	Deafness (Deaf Mutism) 05/2016 - 02/2008
2	Optic Atrophy 01/2020 - 12/2013
2	Seizures (Absence Seizure) 01/2019 - 01/2018
2	Cataract (Cataracts) 11/2018 - 02/2013
2	Mitochondrial Myopathies (Mitochondrial Myopathy) 08/2018 - 10/2016
2	Epilepsy (Aura) 01/2018 - 01/2014
2	Lactic Acidosis 05/2016 - 09/2013
1	Uniparental Disomy 03/2021
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 03/2021
1	Paresis (Hemiparesis) 01/2020
1	Late Onset Disorders 01/2020
1	Spastic Ataxia 01/2020
1	Sensorineural Hearing Loss 11/2018
1	Infantile Spasms (West Syndrome) 11/2018
1	Hypersensitivity (Allergy) 01/2018
1	Cerebellar Ataxia (Dysmetria) 01/2018
1	Epilepsia Partialis Continua 01/2018
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2018
1	Sideroblastic Anemia 01/2017
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2017
1	Paraganglioma (Paragangliomas) 08/2015
1	Pontocerebellar Hypoplasia Type 6 07/2015
1	Liver Failure 03/2014
1	Cholestasis 03/2014
1	Respiratory Insufficiency (Respiratory Failure) 12/2013
1	Drug Resistant Epilepsy 12/2013
1	Mitochondrial encephalopathy 09/2013
1	Inborn Genetic Diseases (Disease, Hereditary) 09/2013
1	Muscular Dystrophies (Muscular Dystrophy) 06/2013
1	Spastic Paraparesis 02/2013
1	Paraparesis 02/2013
1	Leukoencephalopathies 07/2012
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 12/2011
1	Hereditary Myopathy with Lactic Acidosis 06/2010
1	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 03/2009
1	Nervous System Diseases (Neurological Disorders) 07/2008
1	Ophthalmoplegia (External Ophthalmoplegia) 02/2008
1	Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy) 02/2008
1	CADASIL 01/2008

Drug/Important Bio-Agent (IBA)

20	Mitochondrial DNA (mtDNA)IBA 01/2020 - 07/2002
8	Proteins (Proteins, Gene)FDA Link 03/2021 - 02/2008
6	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 08/2018 - 02/2008
4	Transfer RNA (tRNA)IBA 01/2018 - 10/2008
3	Lactic Acid (Lactate)FDA LinkGeneric 01/2019 - 01/2017
3	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2018 - 10/2015
2	Biological ProductsIBA 03/2021 - 01/2019
2	Amino Acids FDA Link 01/2020 - 08/2015
2	EnzymesIBA 01/2018 - 07/2015
2	MethyltransferasesIBA 01/2018 - 05/2016
2	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 07/2015 - 01/2014
1	Biomarkers (Surrogate Marker)IBA 01/2020
1	Polynucleotide Adenylyltransferase (Polymerase, Poly A)IBA 01/2020
1	fibroblast growth factor 21IBA 01/2020
1	GMP ReductaseIBA 01/2020
1	BezafibrateIBA 01/2020
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2020
1	Peptide Elongation Factors (Elongation Factor)IBA 01/2019
1	Alanine-tRNA LigaseIBA 01/2019
1	Growth Hormone (Somatotropin)IBA 11/2018
1	Adenosine Triphosphate (ATP)IBA 08/2018
1	Adenosine Diphosphate (ADP)IBA 08/2018
1	DNA (Deoxyribonucleic Acid)IBA 01/2018
1	Valine-tRNA LigaseIBA 01/2018
1	coenzyme Q10 (CoQ10)IBA 01/2018
1	Ligases (Synthetase)IBA 01/2018
1	tyrosyl-DNA phosphodiesteraseIBA 01/2018
1	1,2- di- (4- sulfamidophenyl)- 4- butylpyrazolidine- 3,5- dione (DSB)IBA 01/2018
1	ATP Translocases Mitochondrial ADPIBA 10/2016
1	Ribonuclease P (RNase P)IBA 05/2016
1	RNA (Ribonucleic Acid)IBA 10/2015
1	ProteomeIBA 06/2014
1	deoxyguanosine kinaseIBA 03/2014
1	Phenylalanine (L-Phenylalanine)FDA Link 01/2014
1	Phenylalanine-tRNA LigaseIBA 01/2014
1	Isoleucine (L-Isoleucine)FDA Link 07/2013
1	Ile Transfer RNAIBA 07/2013
1	DesminIBA 06/2013
1	Glu Transfer RNAIBA 02/2013
1	DNA-Directed DNA Polymerase (Polymerases, DNA)IBA 11/2012
1	Succinic Acid (Succinate)IBA 09/2012
1	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 08/2010
1	Succinate Dehydrogenase (Fumarate Reductase)IBA 07/2010
1	SulfurIBA 06/2010
1	IronIBA 06/2010
1	sulofenur (ISCU)IBA 06/2010
1	Pro Transfer RNAIBA 03/2009
1	Ser Transfer RNAIBA 10/2008
1	Ala Transfer RNAIBA 01/2008
1	NucleotidesIBA 09/2003

Therapy/Procedure

1	Mechanical Ventilators (Ventilator) 10/2016
1	Critical Care (Surgical Intensive Care) 10/2015