Zofia M A Chrzanowska-Lightowlers Selected Research

Polynucleotide Adenylyltransferase (Polymerase, Poly A)

1/2020	Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
12/2014	A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.

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Zofia M A Chrzanowska-Lightowlers Research Topics

Disease

4	Mitochondrial Diseases (Mitochondrial Disease) 01/2018 - 06/2014
3	Spastic Ataxia 01/2020 - 11/2010
2	Optic Atrophy 01/2020 - 12/2014
2	Lactic Acidosis 01/2018 - 03/2006
2	Muscle Hypotonia (Hypotonia) 01/2018 - 01/2017
2	Seizures (Absence Seizure) 01/2018 - 01/2017
2	Cytochrome-c Oxidase Deficiency 12/2015 - 01/2014
2	Mitochondrial Myopathies (Mitochondrial Myopathy) 06/2014 - 07/2004
1	CODAS syndrome 01/2018
1	Muscle Weakness 01/2018
1	Epilepsia Partialis Continua 01/2018
1	Leigh Disease (Leigh's Disease) 01/2018
1	3-Methylglutaconic Aciduria 01/2017
1	Neutropenia 01/2017
1	Epilepsy (Aura) 01/2014
1	Liver Diseases (Liver Disease) 01/2011
1	Neurodegenerative Diseases (Neurodegenerative Disease) 11/2010
1	Hereditary Myopathy with Lactic Acidosis 06/2010
1	Muscular Diseases (Myopathy) 06/2010
1	Acquired Immunodeficiency Syndrome (AIDS) 11/2008
1	Hypertrophy 03/2006
1	Aortic Coarctation 03/2006
1	Inborn Genetic Diseases (Disease, Hereditary) 03/2006
1	Fatal Infantile Lactic Acidosis 03/2006
1	Starvation 01/2005
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 07/2002

Drug/Important Bio-Agent (IBA)

4	Mitochondrial DNA (mtDNA)IBA 01/2018 - 03/2006
3	Proteins (Proteins, Gene)FDA Link 06/2014 - 03/2006
2	Polynucleotide Adenylyltransferase (Polymerase, Poly A)IBA 01/2020 - 12/2014
2	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2018 - 12/2015
2	Messenger RNA (mRNA)IBA 11/2010 - 01/2005
1	Peptide Hydrolases (Proteases)FDA Link 01/2018
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2018
1	Valine-tRNA LigaseIBA 01/2018
1	Transfer RNA (tRNA)IBA 01/2018
1	EnzymesIBA 01/2018
1	Ligases (Synthetase)IBA 01/2018
1	Serine Proteases (Serine Protease)IBA 01/2017
1	Biomarkers (Surrogate Marker)IBA 01/2017
1	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 12/2015
1	nicotinamide-beta-ribosideIBA 06/2014
1	NAD (NADH)IBA 06/2014
1	DNA (Deoxyribonucleic Acid)IBA 06/2014
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 01/2014
1	Phenylalanine (L-Phenylalanine)FDA Link 01/2014
1	Phenylalanine-tRNA LigaseIBA 01/2014
1	RNA (Ribonucleic Acid)IBA 01/2011
1	sulofenur (ISCU)IBA 06/2010
1	IronIBA 06/2010
1	SulfurIBA 06/2010
1	Ser Transfer RNAIBA 07/2004
1	Superoxide Dismutase-1IBA 07/2002