Rolph Pfundt Selected Research

O-GlcNAc transferase

1/2017

Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

Rolph Pfundt Research Topics

Disease

25	Intellectual Disability (Idiocy) 02/2024 - 03/2009
14	Neurodevelopmental Disorders 05/2024 - 01/2018
8	Neoplasms (Cancer) 01/2020 - 02/2003
5	Autistic Disorder (Autism) 01/2023 - 08/2016
4	Seizures (Absence Seizure) 01/2020 - 05/2007
3	Brain Diseases (Brain Disorder) 11/2023 - 04/2015
3	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 01/2021 - 08/2016
3	Ataxia (Dyssynergia) 01/2020 - 05/2007
3	Microcephaly 01/2020 - 05/2007
3	Psoriasis (Pustulosis Palmaris et Plantaris) 12/2005 - 07/2002
2	Rare Diseases (Rare Disease) 11/2023 - 10/2023
2	KBG syndrome 11/2023 - 10/2022
2	Inborn Genetic Diseases (Disease, Hereditary) 10/2023 - 01/2017
2	Epilepsy (Aura) 01/2022 - 01/2018
2	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2021 - 10/2017
2	Prostatic Neoplasms (Prostate Cancer) 01/2020 - 07/2005
2	Walker-Warburg Syndrome 12/2017 - 05/2012
2	Muscular Dystrophies (Muscular Dystrophy) 12/2017 - 05/2012
2	Uveal melanoma 06/2015 - 04/2015
1	Congenital Abnormalities (Deformity) 05/2024
1	Megalencephaly 12/2023
1	Aneuploidy (Aneuploid) 11/2023
1	Critical Illness (Critically Ill) 01/2023
1	Congenital Heart Defects (Congenital Heart Defect) 01/2023
1	Hemoglobinopathies 11/2021
1	Bone Fractures (Bone Fracture) 04/2021
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 04/2021
1	Starvation 01/2021
1	Parkinson Disease (Parkinson's Disease) 01/2021
1	Schizophrenia (Dementia Praecox) 01/2021
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2021
1	Floating-harbor syndrome 01/2021
1	Cerebral Palsy (Spastic Diplegia) 01/2020
1	Peripheral Nervous System Diseases (PNS Diseases) 01/2020
1	Endometrial Neoplasms (Endometrial Cancer) 01/2020
1	Nasodigitoacoustic syndrome 01/2019
1	Complex Partial Epilepsy (Psychomotor Epilepsy) 01/2019
1	Muscle Hypotonia (Hypotonia) 01/2019
1	Cognitive Dysfunction 01/2018
1	Overweight 01/2018
1	Spastic ataxia Charlevoix-Saguenay type 01/2018
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 12/2017
1	Autism Spectrum Disorder 10/2017
1	Kleefstra Syndrome 10/2017
1	Retinal Degeneration 04/2017
1	Brachydactyly 04/2017
1	Craniofacial Abnormalities 04/2017
1	Adducted Thumbs) Syndrome Shuffling Gait Aphasia MASA (Mental Retardation 01/2017

Drug/Important Bio-Agent (IBA)

13	Proteins (Proteins, Gene)FDA Link 01/2024 - 02/2003
8	DNA (Deoxyribonucleic Acid)IBA 01/2019 - 03/2009
6	Transcription Factors (Transcription Factor)IBA 01/2021 - 02/2016
4	ChromatinIBA 12/2019 - 02/2003
3	Messenger RNA (mRNA)IBA 11/2023 - 12/2005
2	4- trimethylammonium- 4'- isothiocyanostilbene- 2,2'- disulfonic acidIBA 02/2024 - 09/2023
2	Blood Glucose (Blood Sugar)IBA 11/2023 - 05/2007
2	ElementsIBA 11/2023 - 10/2023
2	NucleotidesIBA 01/2023 - 01/2017
2	Kainic Acid Receptors (Kainate Receptor)IBA 11/2021 - 01/2021
2	RNA (Ribonucleic Acid)IBA 01/2021 - 01/2019
2	Histone MethyltransferasesIBA 01/2021 - 10/2017
2	Retinaldehyde (Retinal)IBA 01/2018 - 01/2016
2	Dystroglycans (Dystroglycan)IBA 12/2017 - 05/2012
1	Deubiquitinating EnzymesIBA 05/2024
1	Cyclin D2IBA 12/2023
1	Myc associated factor XIBA 12/2023
1	CeramidesIBA 01/2023
1	SphingolipidsIBA 01/2023
1	Amino Acids FDA Link 01/2023
1	GlobinsIBA 11/2021
1	Single-Stranded DNA (DNA, Single Stranded)IBA 04/2021
1	A-Form DNA (A-DNA)IBA 04/2021
1	Mechanistic Target of Rapamycin Complex 1IBA 01/2021
1	SynucleinsIBA 01/2021
1	Histones (Histone)IBA 01/2021
1	MethyltransferasesIBA 01/2021
1	Lysine (L-Lysine)FDA Link 01/2021
1	RNA-Induced Silencing ComplexIBA 10/2020
1	asparaginyl-tRNA synthetaseIBA 01/2020
1	Cadherins (E-Cadherin)IBA 01/2020
1	CateninsIBA 01/2020
1	Uridine Diphosphate Glucose (UDP Glucose)IBA 01/2020
1	Histone Acetyltransferases (Histone Acetyltransferase)IBA 01/2019
1	GlypicansIBA 01/2019
1	Carrier Proteins (Binding Protein)IBA 01/2019
1	RNA Helicases (RNA Helicase)IBA 01/2019
1	Adenosine Triphosphatases (ATPase)IBA 11/2018
1	Mediator ComplexIBA 05/2018
1	Wiskott-Aldrich Syndrome Protein FamilyIBA 01/2018
1	2- amino- 1- methyl- 6- phenylimidazo(4,5- b)pyridineIBA 01/2018
1	Valproic Acid (Depakote)FDA LinkGeneric 01/2018
1	N-acetyltryptophanamide (NATA)IBA 01/2018
1	Glutamine (L-Glutamine)FDA Link 01/2018
1	Guanosine Diphosphate (GDP)IBA 11/2017
1	Guanosine Triphosphate (GTP)IBA 11/2017
1	EuchromatinIBA 10/2017
1	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 01/2017
1	O-GlcNAc transferaseIBA 01/2017

Therapy/Procedure

5	Therapeutics 01/2022 - 05/2007
2	Ligation 06/2015 - 04/2015
1	Prenatal Care (Care, Prenatal) 01/2023