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Erwin Petek Selected Research

Mandibuloacral dysplasia with type B lipodystrophy

7/2022An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.

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Erwin Petek Research Topics

Disease

3Autistic Disorder (Autism)
05/2014 - 09/2009
2Type 2 Maturity-Onset Diabetes of the Young
10/2011 - 07/2006
1Progeria (Hutchinson Gilford Syndrome)
07/2022
1Mandibuloacral dysplasia with type B lipodystrophy
07/2022
12-Hydroxyglutaricaciduria
01/2022
1Complementation Group C Xeroderma Pigmentosum
01/2020
1Xeroderma Pigmentosum (Kaposi's Disease)
01/2020
1Neurodevelopmental Disorders
05/2013
1Autism Spectrum Disorder
05/2013
1Alkalosis
05/2013
1Epilepsy (Aura)
05/2013
1Temporal Lobe Epilepsy
05/2013
1Schizophrenia (Dementia Praecox)
05/2013
1Seizures (Absence Seizure)
05/2013
1Hyperglycemia
10/2011
1Glucose Intolerance
10/2011
1Inborn Genetic Diseases (Disease, Hereditary)
01/2008
1Tourette Syndrome (Tourette's Syndrome)
01/2007
1Corneal Opacity
07/2006
1Proteinuria
07/2006
1Mason-Type Diabetes
07/2006
1Lecithin Cholesterol Acyltransferase Deficiency (Lecithin:Cholesterol Acyltransferase Deficiency)
07/2006
1Pathologic Constriction (Stenosis)
11/2005
1Congenital Generalized Lipodystrophy (Berardinelli-Seip Congenital Lipodystrophy)
03/2004

Drug/Important Bio-Agent (IBA)

5Proteins (Proteins, Gene)FDA Link
01/2022 - 03/2004
2GlucokinaseIBA
10/2011 - 07/2006
1monoaminocarboxydihydroboraneIBA
07/2022
1Initiator Codon (Start Codon)IBA
07/2022
1AcidsIBA
01/2022
1Brain-Derived Neurotrophic Factor (BDNF)IBA
05/2014
1gephyrinIBA
05/2013
1NeurexinsIBA
05/2013
1NeuroliginsIBA
05/2013
1Messenger RNA (mRNA)IBA
05/2013
1AutoantibodiesIBA
10/2011
1EnzymesIBA
10/2011
1DesmocollinsIBA
09/2009
1Peptide Hydrolases (Proteases)FDA Link
01/2007
1Triglycerides (Triacylglycerol)IBA
07/2006
1HDL CholesterolIBA
07/2006
1CreatinineIBA
07/2006
1Phosphatidylcholine-Sterol O-Acyltransferase (Lecithin Cholesterol Acyltransferase)IBA
07/2006
1ElastinIBA
11/2005
1Factor XI (Plasma Thromboplastin Antecedent)IBA
11/2005