Hexosaminidase A (Hex A)

A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of hexosaminidase A due to mutations in the gene encoding the hexosaminidase alpha subunit is a case of TAY-SACHS DISEASE. Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE.

Also Known As:

Networked: 234 relevant articles (4 outcomes, 16 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1.	Zwierz, Krzysztof: 9 articles (07/2014 - 11/2006)
2.	Waszkiewicz, Napoleon: 6 articles (07/2014 - 01/2011)
3.	Szajda, Sławomir Dariusz: 5 articles (07/2014 - 09/2009)
4.	Chojnowska, Sylwia: 4 articles (07/2014 - 09/2010)
5.	Kępka, Alina: 4 articles (01/2014 - 01/2011)
6.	Sakuraba, Hitoshi: 4 articles (06/2011 - 01/2003)
7.	Mahuran, Don J: 4 articles (01/2011 - 04/2003)
8.	Zalewska, Anna: 3 articles (07/2014 - 01/2013)
9.	Szulc, Agata: 3 articles (07/2014 - 01/2012)
10.	Zalewska-Szajda, Beata: 3 articles (01/2014 - 01/2012)

Related Diseases

1.	Tay-Sachs Disease 02/01/2014 - "Serum biochemistry detected a marked decrease in hexosaminidase A activity in the one lamb tested, when compared with the concentration in age matched controls and genetic analysis identified a mutation in the sheep hexa allele G444R consistent with Tay-Sachs disease in Jacob sheep in North America. " 05/01/2001 - "31Phosphorus magnetic resonance spectroscopy of the brain was performed to study the metabolic changes of a 16-year-old patient with late-onset Tay-Sachs disease who had a heterozygous Gly269-->Ser mutation in the hexosaminidase A encoding gene in compound heterozygosity with another, yet unidentified mutation. " 09/01/1981 - "These preliminary studies suggest that hexosaminidase A can be delivered to the brain by blood--brain barrier modification and may be indicative of the potential for enzyme replacement in patients who hae Tay--Sachs disease." 09/01/1981 - "The present studies were undertaken to evaluate the possibility that hexosaminidase A, the enzyme deficient in Tay--Sachs disease, could be effectively delivered to brain. " 01/01/1981 - "This study determines the long-term fate of human hexosaminidase A supplied to Tay-Sachs disease brain and lung cells. "
2.	Thyroid Neoplasms (Thyroid Cancer) 11/01/2006 - "2. Determination of HEX A activity in serum may be helpful in diagnostics of thyroid cancer." 11/01/2006 - "Also specific activity of HEX A in serum of thyroid cancer patients is significantly higher in comparison to healthy men (p = 0.0393). " 11/01/2006 - "Protein was determined by biuret method and results were expressed in mg/mL. Concentration of HEX A activity in serum of thyroid cancer patients is significantly higherin comparison to healthymen (p = 0.0191). "
3.	Herpes Simplex 08/01/2005 - "We combined the efficacy of a non-replicating Herpes simplex vector encoding for the Hex A alpha-subunit (HSV-T0alphaHex) and the anatomic structure of the brain internal capsule to distribute the missing enzyme optimally. "
4.	Gingivitis 01/01/1992 - "Only the specific activities (as units of enzyme activity per min per microliter of GCF) of beta-mannosidase and hexosaminidase A were significantly different between the groups being greater in the gingivitis group. " 01/01/1992 - "In contrast, the total beta-mannosidase and hexosaminidase A activities were significantly greater in the gingivitis group, while there was no significant difference in the total alpha-mannosidase activity between the groups. "
5.	GM2 Gangliosidoses (GM2 Gangliosidosis) 03/01/2008 - "GM2 gangliosidoses are a group of neuronal storage disorders caused by deficiency in the lysosomal enzyme hexosaminidase A. " 03/23/2007 - "We concluded that PYR functions as a mutation-specific PC, variably enhancing residual lysosomal Hex A levels in late-onset GM2 gangliosidosis patient cells." 06/06/1997 - "To confirm the relationship of the benign mutations and Hex A pseudodeficiency and to determine how the benign mutations reduce Hex A activity, we transiently expressed each of the benign mutations, and other mutations associated with infantile, juvenile, and adult onset forms of GM2 gangliosidosis, as Hex S (alphaalpha) and Hex A (alphabeta) in COS-7 cells. " 08/01/1996 - "Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene." 04/01/1995 - "GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A."

Related Drugs and Biologics

1.	beta-Mannosidase
2.	alpha-Mannosidase (LAMAN)
3.	Hexosaminidase B
4.	Hexosaminidases (Hexosaminidase)
5.	Isoenzymes
6.	Glycoside Hydrolases (Endoglycosidases)
7.	beta-N-Acetylhexosaminidases
8.	G(M2) Ganglioside (Ganglioside GM2)
9.	Glucuronidase
10.	alpha-L-Fucosidase (Fucosidase)

Related Therapies and Procedures

1.	Enzyme Replacement Therapy
2.	Transplantation (Transplant Recipients)
3.	Intravenous Injections
4.	Oral Administration