Michaela Auer-Grumbach Selected Research

Hereditary Sensory and Autonomic Neuropathies (HSAN)

1/2019	Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness.
1/2016	Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.
5/2013	Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.
1/2013	Hereditary sensory and autonomic neuropathies.
6/2011	Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
10/2010	Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.
3/2008	Hereditary sensory neuropathy type I.
5/2004	Hereditary sensory neuropathies.
8/2003	Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene.
10/2002	Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.

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Michaela Auer-Grumbach Research Topics

Disease

10	Hereditary Sensory and Autonomic Neuropathies (HSAN) 01/2019 - 10/2002
5	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 03/2015 - 06/2004
4	Amyloidosis 01/2021 - 03/2008
3	Polyneuropathies (Polyneuropathy) 01/2021 - 01/2016
3	Osteomyelitis 01/2011 - 05/2004
3	Congenital Generalized Lipodystrophy (Berardinelli-Seip Congenital Lipodystrophy) 05/2008 - 03/2004
3	Joint Diseases (Joint Disease) 03/2008 - 03/2003
3	Infections 05/2004 - 03/2003
2	Pain (Aches) 01/2022 - 07/2015
2	Cardiomyopathies (Cardiomyopathy) 01/2021 - 07/2020
2	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2019 - 06/2004
2	Hereditary Spastic Paraplegia 01/2019 - 01/2011
2	Neurodegenerative Diseases (Neurodegenerative Disease) 11/2017 - 04/2016
2	Paraplegia (Spastic Paraplegia) 09/2015 - 08/2012
2	Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal) 03/2015 - 02/2013
2	Type 2B Charcot-Marie-Tooth disease 05/2014 - 03/2003
2	Spontaneous Fractures (Pathological Fracture) 03/2008 - 01/2006
2	Necrosis 03/2008 - 05/2004
2	Foot Ulcer 03/2003 - 03/2003
1	Chronic Pain 01/2022
1	COVID-19 01/2021
1	Transthyretin-Related Hereditary Amyloidosis 07/2020
1	Diabetic Neuropathies (Diabetic Neuropathy) 01/2020
1	Hereditary Sensory and Motor Neuropathy (Dejerine Sottas Disease) 01/2019
1	Fatty Acid Hydroxylase-Associated Neurodegeneration 01/2019
1	Dystonia (Limb Dystonia) 01/2019
1	Inflammation (Inflammations) 01/2019
1	Dementia (Dementias) 01/2016
1	Fever (Fevers) 01/2016
1	Hypohidrosis 01/2016
1	Congenital Pain Insensitivity 01/2016
1	Intellectual Disability (Idiocy) 01/2016
1	Wounds and Injuries (Trauma) 01/2016
1	Uniparental Disomy 01/2016
1	Isaacs Syndrome (Neuromyotonia) 10/2012
1	Vocal Cord Paralysis 08/2012
1	Adducted Thumbs) Syndrome Shuffling Gait Aphasia MASA (Mental Retardation 07/2012
1	Muscular Diseases (Myopathy) 06/2012
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 10/2011
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 10/2011
1	Myasthenia Gravis 10/2011
1	Type 2I Limb-Girdle Muscular Dystrophy 05/2011
1	autosomal dominant Spastic paraplegia 3 01/2011
1	Developmental Bone Diseases (Bone Dysplasia) 06/2010
1	Type IIC Hereditary Motor And Sensory Neuropathy 02/2010
1	Channelopathies 02/2010
1	Optic Atrophy 04/2009
1	Motor Neuron Disease (Primary Lateral Sclerosis) 05/2008
1	Tabes Dorsalis 03/2008
1	Diabetic Foot 03/2008
1	Amelanotic Melanoma (Amelanotic Melanomas) 03/2008
1	Alcoholic Neuropathy (Alcoholic Polyneuropathy) 03/2008

Drug/Important Bio-Agent (IBA)

11	Proteins (Proteins, Gene)FDA Link 01/2019 - 03/2003
5	Serine C-PalmitoyltransferaseIBA 01/2019 - 10/2002
3	Amyloid (Amyloid Fibrils)IBA 01/2021 - 01/2016
3	Prealbumin (Transthyretin)IBA 01/2021 - 10/2018
3	EnzymesIBA 01/2020 - 10/2010
3	SphingolipidsIBA 01/2019 - 10/2010
2	Heat-Shock Proteins (Heat-Shock Protein)IBA 01/2019 - 12/2007
2	ForminsIBA 03/2015 - 02/2013
2	DNA (Deoxyribonucleic Acid)IBA 08/2012 - 06/2004
2	Glycine-tRNA LigaseIBA 05/2008 - 12/2007
1	Analgesics (Analgesic Drugs)IBA 01/2022
1	FructoseIBA 01/2020
1	polyolIBA 01/2020
1	Sorbitol (Yal)FDA Link 01/2020
1	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 01/2019
1	4- ethoxymethylene- 2- phenyl- 2- oxazoline- 5- one (phOx)IBA 01/2019
1	Phosphatidylinositols (Phosphatidylinositol)IBA 01/2019
1	UbiquitinIBA 01/2019
1	periaxinIBA 01/2019
1	Antiviral Agents (Antivirals)IBA 01/2019
1	AntigensIBA 01/2019
1	IronIBA 01/2019
1	Green Fluorescent ProteinsIBA 01/2019
1	alpha-Crystallins (alpha-Crystallin)IBA 01/2019
1	RNA-Binding Proteins (RNA-Binding Protein)IBA 11/2017
1	NucleotidesIBA 01/2016
1	MMEIBA 01/2016
1	Neprilysin (Neutral Endopeptidase)IBA 01/2016
1	Metalloproteases (Metalloproteinases)IBA 01/2016
1	3-(2-carboxyindol-3-yl)propionic acidIBA 01/2016
1	Monomeric GTP-Binding ProteinsIBA 05/2014
1	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 07/2012
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 06/2012
1	muskIBA 10/2011
1	AutoantibodiesIBA 10/2011
1	Dynamins (Dynamin)IBA 01/2011
1	GTP Phosphohydrolases (GTPases)IBA 01/2011
1	spisulosineIBA 10/2010
1	CationsIBA 06/2010
1	AnkyrinsIBA 02/2010
1	Myelin P0 Protein (Myelin Protein Zero)IBA 09/2009
1	Myelin ProteinsIBA 09/2009
1	Nonsense Codon (Nonsense Mutation)IBA 04/2009
1	IgA receptor (protein B)IBA 05/2008
1	Dynactin ComplexIBA 05/2008
1	NeurotoxinsIBA 03/2008

Therapy/Procedure

6	Surgical Amputation (Amputations) 01/2011 - 03/2003
5	Therapeutics 01/2022 - 05/2004