May Christine V Malicdan Selected Research

Nonaka type Distal myopathy

7/2012	Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.
1/2012	Peracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathy.
6/2010	[Animal model of distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy and preclinical trial with sugar compounds].
3/2010	A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review.
11/2009	[Development of therapy for distal myopathy with rimmed vacuoles].
10/2008	Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives.
9/2008	Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM.
11/2007	A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
1/2007	A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
10/2005	Molecular pathomechanism of distal myopathy with rimmed vacuoles.

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May Christine V Malicdan Research Topics

Disease

12	Muscular Diseases (Myopathy) 12/2014 - 01/2007
10	Nonaka type Distal myopathy 07/2012 - 10/2005
4	Atrophy 04/2018 - 09/2008
4	Agenesis of Cerebellar Vermis 12/2017 - 12/2015
4	Muscular Atrophy (Muscle Atrophy) 10/2014 - 06/2009
4	Distal Myopathies (Distal Muscular Dystrophy) 10/2008 - 01/2007
3	Congenital Disorders of Glycosylation 07/2022 - 06/2015
3	Undiagnosed Diseases 01/2022 - 01/2017
3	Seizures (Absence Seizure) 09/2019 - 06/2015
2	Hermanski-Pudlak Syndrome (Hermansky-Pudlak Syndrome) 06/2022 - 11/2016
2	Fibrosis (Cirrhosis) 06/2022 - 01/2021
2	Pulmonary Fibrosis (Fibrosing Alveolitis) 05/2022 - 01/2020
2	Mitochondrial Diseases (Mitochondrial Disease) 01/2021 - 01/2018
2	Neurodegenerative Diseases (Neurodegenerative Disease) 04/2018 - 01/2017
2	Snyder Robinson syndrome 01/2018 - 11/2017
2	Intellectual Disability (Idiocy) 11/2017 - 06/2015
1	Inflammation (Inflammations) 05/2022
1	Acute Lung Injury 05/2022
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 03/2021
1	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy) 03/2021
1	Neuroblastoma 03/2021
1	Leigh Disease (Leigh's Disease) 09/2020
1	Infantile Epileptic-Dyskinetic Encephalopathy 01/2020
1	Breast Neoplasms (Breast Cancer) 01/2020
1	Idiopathic Pulmonary Fibrosis 01/2020
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 12/2019
1	Thrombosis (Thrombus) 09/2019
1	Megalencephaly 09/2019
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2019
1	Uniparental Disomy 01/2019
1	Rare Diseases (Rare Disease) 01/2019
1	Cardiotoxicity 12/2018
1	Microcephaly 04/2018
1	Cerebellar Ataxia (Dysmetria) 01/2018
1	Afibrinogenemia (Fibrinogen Deficiency) 01/2018
1	Leukoencephalopathies 12/2017
1	Quadriplegia (Spastic Quadriplegia) 12/2017
1	Nervous System Diseases (Neurological Disorders) 11/2017
1	Phenylketonurias (Phenylketonuria) 01/2017
1	Dystonia (Limb Dystonia) 01/2017
1	Kidney Diseases (Kidney Disease) 01/2017

Drug/Important Bio-Agent (IBA)

13	Proteins (Proteins, Gene)FDA Link 03/2021 - 10/2005
9	N-Acetylneuraminic Acid (Sialic Acid)IBA 12/2014 - 01/2007
6	Uridine Diphosphate (UDP)IBA 01/2022 - 01/2007
5	EnzymesIBA 11/2017 - 01/2007
3	Bleomycin (Blenoxane)FDA LinkGeneric 05/2022 - 01/2020
3	Racemases and Epimerases (Epimerases and Racemases)IBA 07/2012 - 01/2007
3	N-acylmannosamine kinaseIBA 07/2012 - 01/2007
3	SugarsIBA 01/2012 - 03/2010
2	PotassiumIBA 03/2021 - 01/2019
2	CollagenIBA 01/2021 - 09/2008
2	Messenger RNA (mRNA)IBA 09/2020 - 12/2017
2	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 09/2019 - 06/2015
2	Polysaccharides (Glycans)IBA 01/2019 - 06/2015
2	RNA (Ribonucleic Acid)IBA 12/2018 - 12/2015
2	Spermine SynthaseIBA 01/2018 - 11/2017
2	Growth Hormone (Somatotropin)IBA 03/2017 - 01/2017
2	N-acetylneuraminoyllactoseIBA 10/2014 - 01/2012
2	UDP acetylglucosamine-2-epimeraseIBA 07/2012 - 11/2009
2	Phosphotransferases (Kinase)IBA 11/2009 - 10/2005
2	Amyloid (Amyloid Fibrils)IBA 11/2009 - 06/2009
2	LipidsIBA 03/2009 - 08/2008
2	AcetylglucosamineIBA 11/2007 - 01/2007
1	glucosidase IIBA 07/2022
1	Myosins (Myosin)IBA 06/2022
1	Monomeric GTP-Binding ProteinsIBA 06/2022
1	GuanineIBA 06/2022
1	Potassium Channels (Potassium Channel)IBA 03/2021
1	Interleukin-11 (Interleukin 11)IBA 01/2021
1	Alcian BlueIBA 01/2021
1	C.I. direct red 80IBA 01/2021
1	MRI-1867IBA 01/2021
1	Electron Transport Complex I (NADH-CoQ Reductase)IBA 09/2020
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2020
1	Glycoproteins (Glycoprotein)IBA 01/2020
1	ATP-Binding Cassette Transporters (ABC Transporters)IBA 01/2020
1	CholesterolIBA 12/2019
1	SphingolipidsIBA 12/2019
1	Inositol (Myoinositol)IBA 09/2019
1	ChloridesIBA 01/2019
1	OligosaccharidesIBA 01/2019
1	SodiumIBA 01/2019
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 04/2018
1	Valine-tRNA LigaseIBA 04/2018
1	Fibrinogen (Factor I)FDA Link 01/2018
1	coenzyme Q10 (CoQ10)IBA 01/2018
1	MethyltransferasesIBA 01/2018
1	Peptides (Polypeptides)IBA 01/2018
1	Amino Acids FDA Link 01/2018
1	Inositol Polyphosphate 5-PhosphatasesIBA 12/2017
1	IronIBA 12/2017
1	PolyaminesIBA 11/2017
1	Neurotransmitter Agents (Neurotransmitter)IBA 01/2017
1	Retinaldehyde (Retinal)IBA 01/2017
1	Serotonin (5 Hydroxytryptamine)IBA 01/2017
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2017
1	sapropterin (tetrahydrobiopterin)FDA Link 01/2017
1	Dopamine (Intropin)FDA LinkGeneric 01/2017
1	Deamino Arginine Vasopressin (Desmopressin)FDA LinkGeneric 11/2016

Therapy/Procedure

5	Therapeutics 05/2022 - 01/2007