Aldehyde dehydrogenase 7 family, member A1, also known as ALDH7A1 or antiquitin, is an enzyme that in humans is encoded by the ALDH7A1gene.[5] The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysinecatabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified.[6]
The protein encoded by this gene can localize to the cytosol, mitochondria, or nucleus depending on the inclusion of certain localization sequences. The N-terminal mitochondrial targeting sequence is responsible for mitochondrial localization, while the nuclear localization signal and nuclear export signal are necessary for nuclear localization. Exclusion of the above in the final protein product leads to cytosolic localization. In the protein, two amino acid residues, Glu121 and Arg301, are attributed for the binding and catalyzing one of its substrates, alpha-aminoadipic semialdehyde (α-AASA).[7]
Antiquitin shares 60% homology with the 26g pea turgor protein, also referred to as ALDH7B1, in the green garden pea.[8]
Functionedit
As a member of subfamily 7 of the aldehyde dehydrogenase gene family, antiquitin performs NAD(P)+-dependent oxidation of aldehydes generated by alcohol metabolism, lipid peroxidation, and other cases of oxidative stress, to their corresponding carboxylic acids .[7][8][9] In addition, antiquitin plays a role in protecting cells and tissues from the damaging effects of osmotic stress, presumably through the generation of osmolytes.[8] Antiquitin may also play a protective role for DNA in cell growth, as the protein is found to be up-regulated during the G1–S phase transition, which undergoes the highest degree of oxidative stress in the cell cycle.[7][8] Furthermore, antiquitin functions as an aldehyde dehydrogenase for α-AASA in the pipecolic acid pathway of lysinecatabolism.[7][10]
Localizationedit
Antiquitin function and subcellular localization are closely linked, as it functions in detoxification in the cytosol, lysine catabolism in the mitochondrion, and cell cycle progression in the nucleus.[7][8] In particular, antiquitin localizes to the mitochondria in kidney and liver to contribute to the synthesis of betaine, a chaperone protein that protects against osmotic stress.[8]
Clinical significanceedit
Mutations in this gene cause pyridoxine-dependent epilepsy, which involves a combination of various seizure types that do not respond to standard anticonvulsants, but are treatable via administration of pyridoxine hydrochloride.[10][11] These pyridoxine-dependent seizures have been linked to the failure to oxidize α-AASA in patients due to mutated antiquitin. Additionally, antiquitin is implicated in other diseases, including cancer, diabetes, osteoporosis, premature ovarian failure and Huntington's disease, though the exact mechanisms remain unclear.[7][12]
^ abcGRCh38: Ensembl release 89: ENSG00000164904 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000053644 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Skvorak AB, Robertson NG, Yin Y, Weremowicz S, Her H, Bieber FR, Beisel KW, Lynch ED, Beier DR, Morton CC (December 1997). "An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1)". Genomics. 46 (2): 191–9. doi:10.1006/geno.1997.5026. PMID 9417906.
^ abcdefChan CL, Wong JW, Wong CP, Chan MK, Fong WP (30 May 2011). "Human antiquitin: structural and functional studies". Chemico-Biological Interactions. 191 (1–3): 165–70. Bibcode:2011CBI...191..165C. doi:10.1016/j.cbi.2010.12.019. PMID 21185811.
^ abcdefBrocker C, Lassen N, Estey T, Pappa A, Cantore M, Orlova VV, Chavakis T, Kavanagh KL, Oppermann U, Vasiliou V (June 2010). "Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress". J. Biol. Chem. 285 (24): 18452–63. doi:10.1074/jbc.M109.077925. PMC2881771. PMID 20207735.
^ abMills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT (Mar 2006). "Mutations in antiquitin in individuals with pyridoxine-dependent seizures". Nature Medicine. 12 (3): 307–9. doi:10.1038/nm1366. PMID 16491085. S2CID 27940375.
^Scharer G, Brocker C, Vasiliou V, Creadon-Swindell G, Gallagher RC, Spector E, Van Hove JL (Oct 2010). "The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1". Journal of Inherited Metabolic Disease. 33 (5): 571–81. doi:10.1007/s10545-010-9187-2. PMC3112356. PMID 20814824.
^Giacalone NJ, Den RB, Eisenberg R, Chen H, Olson SJ, Massion PP, Carbone DP, Lu B (May 2013). "ALDH7A1 expression is associated with recurrence in patients with surgically resected non-small-cell lung carcinoma". Future Oncology. 9 (5): 737–45. doi:10.2217/fon.13.19. PMC5341386. PMID 23647301.
^Wang H, Tong L, Wei J, Pan W, Li L, Ge Y, Zhou L, Yuan Q, Zhou C, Yang M (Dec 2014). "The ALDH7A1 genetic polymorphisms contribute to development of esophageal squamous cell carcinoma". Tumour Biology. 35 (12): 12665–70. doi:10.1007/s13277-014-2590-9. PMID 25213698. S2CID 12775026.
Further readingedit
Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (Sep 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
Been JV, Bok LA, Andriessen P, Renier WO (Dec 2005). "Epidemiology of pyridoxine dependent seizures in the Netherlands". Archives of Disease in Childhood. 90 (12): 1293–6. doi:10.1136/adc.2005.075069. PMC1720231. PMID 16159904.
Guo Y, Tan LJ, Lei SF, Yang TL, Chen XD, Zhang F, Chen Y, Pan F, Yan H, Liu X, Tian Q, Zhang ZX, Zhou Q, Qiu C, Dong SS, Xu XH, Guo YF, Zhu XZ, Liu SL, Wang XL, Li X, Luo Y, Zhang LS, Li M, Wang JT, Wen T, Drees B, Hamilton J, Papasian CJ, Recker RR, Song XP, Cheng J, Deng HW (Jan 2010). Georges M (ed.). "Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis". PLOS Genetics. 6 (1): e1000806. doi:10.1371/journal.pgen.1000806. PMC2794362. PMID 20072603.
Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C (May 2009). "Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy". Annals of Neurology. 65 (5): 550–6. doi:10.1002/ana.21568. PMID 19142996. S2CID 42052285.
Salomons GS, Bok LA, Struys EA, Pope LL, Darmin PS, Mills PB, Clayton PT, Willemsen MA, Jakobs C (Oct 2007). "An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1)". Annals of Neurology. 62 (4): 414–8. doi:10.1002/ana.21206. PMID 17721876. S2CID 38972972.
Wong JW, Chan CL, Tang WK, Cheng CH, Fong WP (Jan 2010). "Is antiquitin a mitochondrial Enzyme?". Journal of Cellular Biochemistry. 109 (1): 74–81. doi:10.1002/jcb.22381. PMID 19885858. S2CID 30021201.
Kanno J, Kure S, Narisawa A, Kamada F, Takayanagi M, Yamamoto K, Hoshino H, Goto T, Takahashi T, Haginoya K, Tsuchiya S, Baumeister FA, Hasegawa Y, Aoki Y, Yamaguchi S, Matsubara Y (Aug 2007). "Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis". Molecular Genetics and Metabolism. 91 (4): 384–9. doi:10.1016/j.ymgme.2007.02.010. PMID 17433748.
Kluger G, Blank R, Paul K, Paschke E, Jansen E, Jakobs C, Wörle H, Plecko B (Oct 2008). "Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness". Neuropediatrics. 39 (5): 276–9. doi:10.1055/s-0029-1202833. PMID 19294602. S2CID 2517403.
Plecko B, Paul K, Paschke E, Stoeckler-Ipsiroglu S, Struys E, Jakobs C, Hartmann H, Luecke T, di Capua M, Korenke C, Hikel C, Reutershahn E, Freilinger M, Baumeister F, Bosch F, Erwa W (Jan 2007). "Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene". Human Mutation. 28 (1): 19–26. doi:10.1002/humu.20433. PMID 17068770. S2CID 23732422.
Kaczorowska M, Kmiec T, Jakobs C, Kacinski M, Kroczka S, Salomons GS, Struys EA, Jozwiak S (Dec 2008). "Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology". Journal of Child Neurology. 23 (12): 1455–9. doi:10.1177/0883073808318543. PMID 18854520. S2CID 31665261.
Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM (May 2009). "Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients". Epilepsia. 50 (5): 1167–75. doi:10.1111/j.1528-1167.2008.01816.x. PMID 19128417. S2CID 35563845.
Bok LA, Struys E, Willemsen MA, Been JV, Jakobs C (Aug 2007). "Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels". Archives of Disease in Childhood. 92 (8): 687–9. doi:10.1136/adc.2006.103192. PMC2083882. PMID 17088338.
Tomarev SI, Wistow G, Raymond V, Dubois S, Malyukova I (Jun 2003). "Gene expression profile of the human trabecular meshwork: NEIBank sequence tag analysis". Investigative Ophthalmology & Visual Science. 44 (6): 2588–96. doi:10.1167/iovs.02-1099. PMID 12766061.
External linksedit
GeneReview/NCBI/NIH/UW entry on Pyridoxine-Dependent Seizures
Human ALDH7A1 genome location and ALDH7A1 gene details page in the UCSC Genome Browser.
aldh7a1, aldehyde, dehydrogenase, family, member, also, known, antiquitin, enzyme, that, humans, encoded, gene, protein, encoded, this, gene, member, subfamily, aldehyde, dehydrogenase, gene, family, these, enzymes, thought, play, major, role, detoxification, . Aldehyde dehydrogenase 7 family member A1 also known as ALDH7A1 or antiquitin is an enzyme that in humans is encoded by the ALDH7A1 gene 5 The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation This particular member has homology to a previously described protein from the green garden pea the 26g pea turgor protein It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix Recent reports show that this protein is found both in the cytosol and the mitochondria and the two forms likely arise from the use of alternative translation initiation sites An additional variant encoding a different isoform has also been found for this gene Mutations in this gene are associated with pyridoxine dependent epilepsy Several related pseudogenes have also been identified 6 ALDH7A1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes2J6L 4X0T 4X0U 4ZUK 4ZUL 4ZVW 4ZVX 4ZVYIdentifiersAliasesALDH7A1 ATQ1 EPD PDE aldehyde dehydrogenase 7 family member A1External IDsOMIM 107323 MGI 108186 HomoloGene 913 GeneCards ALDH7A1EC number1 2 1 3Gene location Human Chr Chromosome 5 human 1 Band5q23 2Start126 531 200 bp 1 End126 595 362 bp 1 Gene location Mouse Chr Chromosome 18 mouse 2 Band18 D3 18 30 55 cMStart56 642 759 bp 2 End56 706 023 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright lobe of liverganglionic eminenceamygdalaleft adrenal glandstromal cell of endometriumputamennucleus accumbenscaudate nucleusminor salivary glandsrectumTop expressed inleft lobe of liverseminal vesiculayolk sackidneylacrimal glandsalivary glandproximal tubuleparotid glandlensprimitive streakMore reference expression dataBioGPSn aGene ontologyMolecular functionoxidoreductase activity L aminoadipate semialdehyde dehydrogenase activity protein binding betaine aldehyde dehydrogenase activity aldehyde dehydrogenase NAD activity oxidoreductase activity acting on the aldehyde or oxo group of donors NAD or NADP as acceptor glyceraldehyde 3 phosphate dehydrogenase NAD non phosphorylating activityCellular componentmitochondrial matrix extracellular exosome mitochondrion nucleus cytoplasm cytosolBiological processcellular aldehyde metabolic process sensory perception of sound metabolism glycine betaine biosynthetic process from choline lysine catabolic process choline catabolic processSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez501110695EnsemblENSG00000164904ENSMUSG00000053644UniProtP49419Q9DBF1RefSeq mRNA NM 001182NM 001201377NM 001202404NM 001127338NM 138600RefSeq protein NP 001173NP 001188306NP 001189333NP 001120810NP 613066Location UCSC Chr 5 126 53 126 6 MbChr 18 56 64 56 71 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Structure 2 Function 2 1 Localization 3 Clinical significance 4 Interactions 5 References 6 Further reading 7 External linksStructure editThe protein encoded by this gene can localize to the cytosol mitochondria or nucleus depending on the inclusion of certain localization sequences The N terminal mitochondrial targeting sequence is responsible for mitochondrial localization while the nuclear localization signal and nuclear export signal are necessary for nuclear localization Exclusion of the above in the final protein product leads to cytosolic localization In the protein two amino acid residues Glu121 and Arg301 are attributed for the binding and catalyzing one of its substrates alpha aminoadipic semialdehyde a AASA 7 Antiquitin shares 60 homology with the 26g pea turgor protein also referred to as ALDH7B1 in the green garden pea 8 Function editAs a member of subfamily 7 of the aldehyde dehydrogenase gene family antiquitin performs NAD P dependent oxidation of aldehydes generated by alcohol metabolism lipid peroxidation and other cases of oxidative stress to their corresponding carboxylic acids 7 8 9 In addition antiquitin plays a role in protecting cells and tissues from the damaging effects of osmotic stress presumably through the generation of osmolytes 8 Antiquitin may also play a protective role for DNA in cell growth as the protein is found to be up regulated during the G1 S phase transition which undergoes the highest degree of oxidative stress in the cell cycle 7 8 Furthermore antiquitin functions as an aldehyde dehydrogenase for a AASA in the pipecolic acid pathway of lysine catabolism 7 10 Localization edit Antiquitin function and subcellular localization are closely linked as it functions in detoxification in the cytosol lysine catabolism in the mitochondrion and cell cycle progression in the nucleus 7 8 In particular antiquitin localizes to the mitochondria in kidney and liver to contribute to the synthesis of betaine a chaperone protein that protects against osmotic stress 8 Clinical significance editMutations in this gene cause pyridoxine dependent epilepsy which involves a combination of various seizure types that do not respond to standard anticonvulsants but are treatable via administration of pyridoxine hydrochloride 10 11 These pyridoxine dependent seizures have been linked to the failure to oxidize a AASA in patients due to mutated antiquitin Additionally antiquitin is implicated in other diseases including cancer diabetes osteoporosis premature ovarian failure and Huntington s disease though the exact mechanisms remain unclear 7 12 Interactions editAntiquitin is known to interact with Cyclin A 13 References edit a b c GRCh38 Ensembl release 89 ENSG00000164904 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000053644 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Skvorak AB Robertson NG Yin Y Weremowicz S Her H Bieber FR Beisel KW Lynch ED Beier DR Morton CC December 1997 An ancient conserved gene expressed in the human inner ear identification expression analysis and chromosomal mapping of human and mouse antiquitin ATQ1 Genomics 46 2 191 9 doi 10 1006 geno 1997 5026 PMID 9417906 Entrez Gene ALDH7A1 a b c d e f Chan CL Wong JW Wong CP Chan MK Fong WP 30 May 2011 Human antiquitin structural and functional studies Chemico Biological Interactions 191 1 3 165 70 Bibcode 2011CBI 191 165C doi 10 1016 j cbi 2010 12 019 PMID 21185811 a b c d e f Brocker C Lassen N Estey T Pappa A Cantore M Orlova VV Chavakis T Kavanagh KL Oppermann U Vasiliou V June 2010 Aldehyde dehydrogenase 7A1 ALDH7A1 is a novel enzyme involved in cellular defense against hyperosmotic stress J Biol Chem 285 24 18452 63 doi 10 1074 jbc M109 077925 PMC 2881771 PMID 20207735 Brocker C Cantore M Failli P Vasiliou V May 2011 Aldehyde dehydrogenase 7A1 ALDH7A1 attenuates reactive aldehyde and oxidative stress induced cytotoxicity Chem Biol Interact 191 1 3 269 77 Bibcode 2011CBI 191 269B doi 10 1016 j cbi 2011 02 016 hdl 2158 513857 PMC 3387551 PMID 21338592 a b Mills PB Struys E Jakobs C Plecko B Baxter P Baumgartner M Willemsen MA Omran H Tacke U Uhlenberg B Weschke B Clayton PT Mar 2006 Mutations in antiquitin in individuals with pyridoxine dependent seizures Nature Medicine 12 3 307 9 doi 10 1038 nm1366 PMID 16491085 S2CID 27940375 Scharer G Brocker C Vasiliou V Creadon Swindell G Gallagher RC Spector E Van Hove JL Oct 2010 The genotypic and phenotypic spectrum of pyridoxine dependent epilepsy due to mutations in ALDH7A1 Journal of Inherited Metabolic Disease 33 5 571 81 doi 10 1007 s10545 010 9187 2 PMC 3112356 PMID 20814824 Giacalone NJ Den RB Eisenberg R Chen H Olson SJ Massion PP Carbone DP Lu B May 2013 ALDH7A1 expression is associated with recurrence in patients with surgically resected non small cell lung carcinoma Future Oncology 9 5 737 45 doi 10 2217 fon 13 19 PMC 5341386 PMID 23647301 Wang H Tong L Wei J Pan W Li L Ge Y Zhou L Yuan Q Zhou C Yang M Dec 2014 The ALDH7A1 genetic polymorphisms contribute to development of esophageal squamous cell carcinoma Tumour Biology 35 12 12665 70 doi 10 1007 s13277 014 2590 9 PMID 25213698 S2CID 12775026 Further reading editStelzl U Worm U Lalowski M Haenig C Brembeck FH Goehler H Stroedicke M Zenkner M Schoenherr A Koeppen S Timm J Mintzlaff S Abraham C Bock N Kietzmann S Goedde A Toksoz E Droege A Krobitsch S Korn B Birchmeier W Lehrach H Wanker EE Sep 2005 A human protein protein interaction network a resource for annotating the proteome Cell 122 6 957 68 doi 10 1016 j cell 2005 08 029 hdl 11858 00 001M 0000 0010 8592 0 PMID 16169070 S2CID 8235923 Been JV Bok LA Andriessen P Renier WO Dec 2005 Epidemiology of pyridoxine dependent seizures in the Netherlands Archives of Disease in Childhood 90 12 1293 6 doi 10 1136 adc 2005 075069 PMC 1720231 PMID 16159904 Guo Y Tan LJ Lei SF Yang TL Chen XD Zhang F Chen Y Pan F Yan H Liu X Tian Q Zhang ZX Zhou Q Qiu C Dong SS Xu XH Guo YF Zhu XZ Liu SL Wang XL Li X Luo Y Zhang LS Li M Wang JT Wen T Drees B Hamilton J Papasian CJ Recker RR Song XP Cheng J Deng HW Jan 2010 Georges M ed Genome wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis PLOS Genetics 6 1 e1000806 doi 10 1371 journal pgen 1000806 PMC 2794362 PMID 20072603 Gallagher RC Van Hove JL Scharer G Hyland K Plecko B Waters PJ Mercimek Mahmutoglu S Stockler Ipsiroglu S Salomons GS Rosenberg EH Struys EA Jakobs C May 2009 Folinic acid responsive seizures are identical to pyridoxine dependent epilepsy Annals of Neurology 65 5 550 6 doi 10 1002 ana 21568 PMID 19142996 S2CID 42052285 Salomons GS Bok LA Struys EA Pope LL Darmin PS Mills PB Clayton PT Willemsen MA Jakobs C Oct 2007 An intriguing silent mutation and a founder effect in antiquitin ALDH7A1 Annals of Neurology 62 4 414 8 doi 10 1002 ana 21206 PMID 17721876 S2CID 38972972 Wong JW Chan CL Tang WK Cheng CH Fong WP Jan 2010 Is antiquitin a mitochondrial Enzyme Journal of Cellular Biochemistry 109 1 74 81 doi 10 1002 jcb 22381 PMID 19885858 S2CID 30021201 Kanno J Kure S Narisawa A Kamada F Takayanagi M Yamamoto K Hoshino H Goto T Takahashi T Haginoya K Tsuchiya S Baumeister FA Hasegawa Y Aoki Y Yamaguchi S Matsubara Y Aug 2007 Allelic and non allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis Molecular Genetics and Metabolism 91 4 384 9 doi 10 1016 j ymgme 2007 02 010 PMID 17433748 Striano P Battaglia S Giordano L Capovilla G Beccaria F Struys EA Salomons GS Jakobs C Apr 2009 Two novel ALDH7A1 antiquitin splicing mutations associated with pyridoxine dependent seizures Epilepsia 50 4 933 6 doi 10 1111 j 1528 1167 2008 01741 x PMID 18717709 S2CID 41230917 Kluger G Blank R Paul K Paschke E Jansen E Jakobs C Worle H Plecko B Oct 2008 Pyridoxine dependent epilepsy normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness Neuropediatrics 39 5 276 9 doi 10 1055 s 0029 1202833 PMID 19294602 S2CID 2517403 Plecko B Paul K Paschke E Stoeckler Ipsiroglu S Struys E Jakobs C Hartmann H Luecke T di Capua M Korenke C Hikel C Reutershahn E Freilinger M Baumeister F Bosch F Erwa W Jan 2007 Biochemical and molecular characterization of 18 patients with pyridoxine dependent epilepsy and mutations of the antiquitin ALDH7A1 gene Human Mutation 28 1 19 26 doi 10 1002 humu 20433 PMID 17068770 S2CID 23732422 Kaczorowska M Kmiec T Jakobs C Kacinski M Kroczka S Salomons GS Struys EA Jozwiak S Dec 2008 Pyridoxine dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency the first polish case with confirmed biochemical and molecular pathology Journal of Child Neurology 23 12 1455 9 doi 10 1177 0883073808318543 PMID 18854520 S2CID 31665261 Bennett CL Chen Y Hahn S Glass IA Gospe SM May 2009 Prevalence of ALDH7A1 mutations in 18 North American pyridoxine dependent seizure PDS patients Epilepsia 50 5 1167 75 doi 10 1111 j 1528 1167 2008 01816 x PMID 19128417 S2CID 35563845 Bok LA Struys E Willemsen MA Been JV Jakobs C Aug 2007 Pyridoxine dependent seizures in Dutch patients diagnosis by elevated urinary alpha aminoadipic semialdehyde levels Archives of Disease in Childhood 92 8 687 9 doi 10 1136 adc 2006 103192 PMC 2083882 PMID 17088338 Tomarev SI Wistow G Raymond V Dubois S Malyukova I Jun 2003 Gene expression profile of the human trabecular meshwork NEIBank sequence tag analysis Investigative Ophthalmology amp Visual Science 44 6 2588 96 doi 10 1167 iovs 02 1099 PMID 12766061 External links editGeneReview NCBI NIH UW entry on Pyridoxine Dependent Seizures Human ALDH7A1 genome location and ALDH7A1 gene details page in the UCSC Genome Browser This article incorporates text from the United States National Library of Medicine which is in the public domain Retrieved from https en wikipedia org w index php title ALDH7A1 amp oldid 1210543010, wikipedia, wiki, book, books, library,
