Helena Hůlková Selected Research

cysteine string protein

1/2020	Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.
8/2011	Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

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Helena Hůlková Research Topics

Disease

3	Homocystinuria 01/2020 - 01/2016
3	Kidney Diseases (Kidney Disease) 01/2018 - 07/2016
3	Renal Insufficiency (Renal Failure) 01/2018 - 08/2009
3	Fabry Disease (Fabry's Disease) 05/2012 - 06/2008
2	Chronic Kidney Failure (Chronic Renal Failure) 12/2020 - 08/2009
2	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 01/2020 - 08/2011
2	Cystic Kidney Diseases (Cystic Kidney Disease) 01/2018 - 03/2013
1	Liver Diseases (Liver Disease) 01/2020
1	Osteoporosis 12/2017
1	Perinatal Death 12/2017
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2016
1	Metabolic Diseases (Metabolic Disease) 01/2016
1	Urinary Retention 02/2015
1	Mucopolysaccharidosis III (Sanfilippo Syndrome) 02/2015
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 09/2014
1	Confusion (Bewilderment) 03/2014
1	Amyloid Plaque 03/2014
1	Cholesterol Ester Storage Disease 06/2012
1	Wolman Disease (Wolman's Disease) 06/2012
1	Fatty Liver 06/2012
1	Neurodegenerative Diseases (Neurodegenerative Disease) 08/2011
1	Familial Juvenile 2 Hyperuricemic Nephropathy 08/2009
1	Anemia 08/2009
1	Hyperuricemia 08/2009
1	Juvenile gout 10/2005

Drug/Important Bio-Agent (IBA)

4	EnzymesIBA 12/2017 - 06/2008
3	HomocysteineIBA 01/2020 - 01/2016
3	CystathionineIBA 01/2020 - 01/2016
3	Mucin-1 (CA 15-3 Antigen)IBA 01/2018 - 03/2013
2	ReninIBA 12/2020 - 08/2009
2	cysteine string proteinIBA 01/2020 - 08/2011
2	CytosineIBA 01/2018 - 03/2013
2	Sulfur Amino AcidsIBA 12/2017 - 01/2016
2	Cysteine (L-Cysteine)FDA Link 12/2017 - 01/2016
2	Proteins (Proteins, Gene)FDA Link 03/2014 - 08/2011
2	LipidsIBA 06/2012 - 12/2010
2	GalactosidasesIBA 05/2012 - 12/2010
1	CeroidIBA 01/2020
1	Methionine (L-Methionine)FDA Link 01/2016
1	Protein Isoforms (Isoforms)IBA 01/2016
1	Dihydrotachysterol (AT 10)IBA 02/2015
1	AcetyltransferasesIBA 02/2015
1	Acetyl Coenzyme A (Acetyl-CoA)IBA 02/2015
1	cis-prenyl transferaseIBA 09/2014
1	DolicholsIBA 09/2014
1	CholesterolIBA 09/2014
1	apolipoprotein A-IV (apolipoprotein AIV)IBA 03/2014
1	Analgesics (Analgesic Drugs)IBA 03/2014
1	Serum Amyloid P-ComponentIBA 03/2014
1	Prealbumin (Transthyretin)IBA 03/2014
1	Amyloid (Amyloid Fibrils)IBA 03/2014
1	Apolipoprotein A-I (Apolipoprotein A1)IBA 03/2014
1	DNA (Deoxyribonucleic Acid)IBA 06/2012
1	ParaffinIBA 06/2012
1	Sterol Esterase (Hormone-Sensitive Lipase)IBA 06/2012
1	Eosine Yellowish-(YS) (Eosin)IBA 06/2012
1	GlycosphingolipidsIBA 05/2012
1	globotriaosylceramide (globotriosylceramide)IBA 05/2012
1	Galactose (Galactopyranose)FDA LinkGeneric 12/2010
1	Protein Sorting Signals (Signal Peptide)IBA 08/2009
1	Amino Acids FDA Link 08/2009
1	Leucine (L-Leucine)FDA Link 08/2009
1	alpha-Galactosidase (Beano)IBA 06/2008
1	UromodulinIBA 10/2005

Therapy/Procedure

2	Enzyme Replacement Therapy 01/2020 - 01/2016
1	Enzyme Therapy 01/2020
1	Kidney Transplantation 07/2016
1	Therapeutics 06/2008