Angela Huebner Selected Research

Achalasia Addisonianism Alacrimia syndrome

1/2018	Compensation for chronic oxidative stress in ALADIN null mice.
1/2018	Triple A patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers.
1/2017	Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child.
11/2016	Identification of a novel putative interaction partner of the nucleoporin ALADIN.
1/2015	Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis.
10/2012	Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.
11/2010	Triple A syndrome: 32 years experience of a single centre (1977-2008).
12/2009	Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism.
3/2009	Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome.
9/2008	Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation.

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Angela Huebner Research Topics

Disease

15	Achalasia Addisonianism Alacrimia syndrome 01/2018 - 02/2003
8	Alacrima 01/2020 - 11/2004
8	Esophageal Achalasia (Megaesophagus) 01/2017 - 11/2004
5	Muscular Dystrophies (Muscular Dystrophy) 01/2020 - 12/2003
5	Adrenal Insufficiency (Adrenal Gland Hypofunction) 01/2017 - 08/2007
5	Muscular Diseases (Myopathy) 10/2015 - 08/2005
4	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 01/2014 - 03/2003
4	Infections 10/2009 - 11/2004
3	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 12/2022 - 05/2021
3	Neoplasms (Cancer) 01/2020 - 04/2017
3	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2018 - 01/2011
3	Hyperpigmentation 09/2015 - 01/2008
3	Myofibrillar Myopathy 12/2007 - 08/2005
2	Hyperplasia 06/2022 - 01/2015
2	Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 03/2022 - 11/2020
2	Neuroblastoma 01/2020 - 07/2019
2	Muscle Weakness 01/2018 - 01/2008
2	type 2B Limb-girdle muscular dystrophy 10/2015 - 12/2003
2	Miyoshi myopathy 10/2015 - 12/2003
2	Seizures (Absence Seizure) 09/2015 - 06/2004
2	Nemaline Myopathies (Nemaline Myopathy) 05/2015 - 08/2011
2	Nervous System Diseases (Neurological Disorders) 06/2013 - 12/2009
2	Muscular Atrophy (Muscle Atrophy) 01/2011 - 01/2008
2	Hypoglycemia (Reactive Hypoglycemia) 10/2009 - 02/2005
2	Respiratory Insufficiency (Respiratory Failure) 10/2006 - 11/2004
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 06/2022
1	Metabolic Bone Diseases (Osteopenia) 11/2020
1	Hypohidrosis 01/2020
1	Intellectual Disability (Idiocy) 01/2020
1	Cohen syndrome 01/2020
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2018
1	Type 2G Limb-Girdle Muscular Dystrophy 01/2018
1	Hypoxia (Hypoxemia) 04/2017
1	Wounds and Injuries (Trauma) 01/2017
1	Atrophy 11/2016
1	Pituitary Dwarfism 01/2016
1	Deglutition Disorders (Dysphagia) 09/2015
1	Hypogonadism (Hypergonadotropic Hypogonadism) 09/2015
1	Dry Eye Syndromes (Dry Eye Syndrome) 09/2015
1	Neurofibromatosis 1 (Neurofibromatosis Type I) 01/2015
1	Adenoma (Adenomas) 01/2015
1	Congenital Disorders of Glycosylation 10/2013
1	Inborn Genetic Diseases (Disease, Hereditary) 10/2012
1	Distal Myopathies (Distal Muscular Dystrophy) 08/2011
1	Type 1 Diabetes Mellitus (Autoimmune Diabetes) 07/2011
1	Wolfram Syndrome (Syndrome, Wolfram) 07/2011

Drug/Important Bio-Agent (IBA)

13	Proteins (Proteins, Gene)FDA Link 01/2018 - 03/2003
9	Adrenocorticotropic Hormone (ACTH)FDA Link 01/2017 - 11/2004
6	Hydrocortisone (Cortisol)FDA LinkGeneric 12/2022 - 02/2005
6	GlucocorticoidsIBA 05/2021 - 08/2007
4	Nonsense Codon (Nonsense Mutation)IBA 01/2020 - 08/2005
3	DysferlinIBA 10/2015 - 12/2003
3	DNA (Deoxyribonucleic Acid)IBA 01/2015 - 02/2003
3	FilaminsIBA 04/2010 - 08/2005
2	AndrogensIBA 05/2021 - 11/2020
2	MetanephrineIBA 01/2020 - 04/2017
2	Dystroglycans (Dystroglycan)IBA 01/2020 - 10/2013
2	3-methoxytyramine (methoxytyramine)IBA 01/2020 - 04/2017
2	CatecholaminesIBA 01/2020 - 07/2019
2	Nuclear Pore Complex Proteins (Nucleoporins)IBA 01/2018 - 11/2016
2	Growth Hormone (Somatotropin)IBA 01/2016 - 03/2007
2	Hormones (Hormone)IBA 01/2016 - 09/2015
2	nebulinIBA 05/2015 - 08/2011
2	EnzymesIBA 10/2013 - 12/2007
2	peripheral membrane protein 43KIBA 10/2006 - 11/2004
2	Cholinesterase Inhibitors (Anticholinesterases)IBA 10/2006 - 11/2004
1	Steroid 21-Hydroxylase (21 Hydroxylase)IBA 06/2022
1	Dexamethasone (Maxidex)FDA LinkGeneric 03/2022
1	MineralocorticoidsIBA 05/2021
1	SaltsIBA 11/2020
1	Laminin (Merosin)IBA 01/2020
1	NormetanephrineIBA 01/2020
1	3-methoxytyrosineIBA 01/2020
1	Vanilmandelic Acid (Vanillylmandelic Acid)IBA 01/2020
1	Homovanillic AcidIBA 01/2020
1	Glutathione (Reduced Glutathione)IBA 01/2018
1	2,2,2',4'-tetrachloroacetophenoneIBA 01/2018
1	Adrenergic Agents (Adrenergic Drugs)IBA 04/2017
1	Phosphotransferases (Kinase)IBA 04/2017
1	AntioxidantsIBA 01/2017
1	Acetylcysteine (Siran)FDA LinkGeneric 01/2017
1	Cytochrome P-450 Enzyme System (Cytochrome P450)IBA 11/2016
1	Hypoglycemic Agents (Hypoglycemics)IBA 09/2015
1	Neurofibromin 1 (Neurofibromin)IBA 01/2015
1	muskIBA 01/2014
1	Albuterol (Salbutamol)FDA LinkGeneric 01/2014
1	mannose 1-phosphate guanylyltransferaseIBA 10/2013
1	Guanosine Diphosphate Mannose (GDP Mannose)IBA 10/2013
1	GlycolipidsIBA 10/2013
1	Glycoproteins (Glycoprotein)IBA 10/2013
1	Polysaccharides (Glycans)IBA 10/2013
1	Guanosine Diphosphate (GDP)IBA 10/2013
1	Pharmaceutical PreparationsIBA 10/2012
1	Glucose (Dextrose)FDA LinkGeneric 07/2011
1	Creatine Kinase (Creatine Phosphokinase)IBA 01/2011
1	AnoctaminsIBA 01/2011
1	Chloride Channels (Chloride Channel)IBA 01/2011
1	Crystallins (Crystallin)IBA 04/2010

Therapy/Procedure

1	Glycemic Control 07/2011
1	Therapeutics 11/2010