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Select item 91867741.

The impact of ALDH7A1 variants in oral cancer development and prognosis

Hsueh-Ju Lu, Chun-Yi Chuang, Mu-Kuan Chen, Chun-Wen Su, Wei-En Yang, Chia-Ming Yeh, Kuan-Ming Lai, Chih-Hsin Tang, Chiao-Wen Lin, Shun-Fa Yang

Aging (Albany NY) 2022 May 31; 14(10): 4556–4571. Published online 2022 May 25. doi: 10.18632/aging.204099

PMCID:: PMC9186774

Abstract Article PDF–759K

Select item 79729972.

Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function

David A. Korasick, John J. Tanner

Biochimie. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Biochimie. 2021 Apr; 183: 49–54. Published online 2020 Sep 19. doi: 10.1016/j.biochi.2020.09.016

PMCID:: PMC7972997

Abstract Article PDF–1.2M

Select item 73841833.

Condensation of delta‐1‐piperideine‐6‐carboxylate with ortho‐aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency

Thomas Boehm, Holger Hubmann, Karin Petroczi, Déborah Mathis, Kristaps Klavins, Guenter Fauler, Barbara Plecko, Eduard Struys, Bernd Jilma

J Inherit Metab Dis. 2020 Jul; 43(4): 891–900. Published online 2020 Jan 29. doi: 10.1002/jimd.12214

PMCID:: PMC7384183

Abstract Article PDF–2.9M

Select item 71824994.

Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy

Adrian R. Laciak, David A. Korasick, Kent S. Gates, John J. Tanner

J Inherit Metab Dis. Author manuscript; available in PMC 2021 May 1.

Published in final edited form as: J Inherit Metab Dis. 2020 May; 43(3): 635–644. Published online 2019 Dec 1. doi: 10.1002/jimd.12184

PMCID:: PMC7182499

Abstract Article PDF–694K

Select item 63456065.

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

Curtis R. Coughlin, II, Michael A. Swanson, Elaine Spector, Naomi J.L. Meeks, Kathryn E. Kronquist, Mezhgan Aslamy, Michael F. Wempe, Clara D.M. van Karnebeek, Sidney M. Gospe, Jr, Verena G. Aziz, Becky P. Tsai, Hanlin Gao, Peter L. Nagy, Keith Hyland, Silvy J.M. van Dooren, Gajja S. Salomons, Johan L.K. Van Hove

J Inherit Metab Dis. Author manuscript; available in PMC 2020 Mar 1.

Published in final edited form as: J Inherit Metab Dis. 2019 Mar; 42(2): 353–361. Published online 2019 Feb 22. doi: 10.1002/jimd.12045

PMCID:: PMC6345606

Abstract Article PDF–557K

Select item 61888146.

NAD⁺ Promotes Assembly of the Active Tetramer of Aldehyde Dehydrogenase 7A1

David A. Korasick, Tommi A. White, Srinivas Chakravarthy, John J. Tanner

FEBS Lett. Author manuscript; available in PMC 2019 Oct 1.

Published in final edited form as: FEBS Lett. 2018 Oct; 592(19): 3229–3238. Published online 2018 Sep 18. doi: 10.1002/1873-3468.13238

PMCID:: PMC6188814

Abstract Article PDF–745K

Select item 59285107.

Importance of the C-Terminus of Aldehyde Dehydrogenase 7A1 for Oligomerization and Catalytic Activity

David A. Korasick, Jesse W. Wyatt, Min Luo, Adrian R. Laciak, Kasi Ruddraraju, Kent S. Gates, Michael T. Henzl, John J. Tanner

Biochemistry. Author manuscript; available in PMC 2018 Jun 7.

Published in final edited form as: Biochemistry. 2017 Nov 7; 56(44): 5910–5919. doi: 10.1021/acs.biochem.7b00803

PMCID:: PMC5928510

Abstract Article PDF–1012K

Select item 55038118.

Impact of Disease-Linked Mutations Targeting the Oligomerization Interfaces of Aldehyde Dehydrogenase 7A1

David A. Korasick, John J. Tanner, Michael T. Henzl

Chem Biol Interact. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Chem Biol Interact. 2017 Oct 1; 276: 31–39. Published online 2017 Jan 10. doi: 10.1016/j.cbi.2017.01.002

PMCID:: PMC5503811

Abstract Article PDF–2.7M

Select item 53413869.

ALDH7A1 expression is associated with recurrence in patients with surgically resected non-small-cell lung carcinoma

Nicholas J Giacalone, Robert B Den, Rosana Eisenberg, Heidi Chen, Sandra J Olson, Pierre P Massion, David P Carbone, Bo Lu

Future Oncol. Author manuscript; available in PMC 2017 Mar 8.

Published in final edited form as: Future Oncol. 2013 May; 9(5): 737–745. doi: 10.2217/fon.13.19

PMCID:: PMC5341386

Abstract Article PDF–1.0M

Select item 456512810.

Structural Basis of Substrate Recognition by Aldehyde Dehydrogenase 7A1

Min Luo, John J. Tanner

Biochemistry. 2015 Sep 8; 54(35): 5513–5522. Published online 2015 Aug 11. doi: 10.1021/acs.biochem.5b00754

PMCID:: PMC4565128

Abstract Article PDF–6.3M

Select item 455302111.

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination

Heather C. Mefford, Matthew Zemel, Eileen Geraghty, Joseph Cook, Peter T. Clayton, Karl Paul, Barbara Plecko, Philippa B. Mills, Douglas R. Nordli, Jr, Sidney M. Gospe, Jr

Neurology. 2015 Sep 1; 85(9): 756–762. doi: 10.1212/WNL.0000000000001883

PMCID:: PMC4553021

Abstract Article PDF–515K

Select item 396393712.

Clinical Diagnosis, Treatment, and ALDH7A1 Mutations in Pyridoxine-Dependent Epilepsy in Three Chinese Infants

Zhixian Yang, Xiaoling Yang, Ye Wu, Jingmin Wang, Yuehua Zhang, Hui Xiong, Yuwu Jiang, Jiong Qin

PLoS One. 2014; 9(3): e92803. Published online 2014 Mar 24. doi: 10.1371/journal.pone.0092803

PMCID:: PMC3963937

Abstract Article PDF–519K

Select item 394541013.

Glial Localization of Antiquitin: Implications for Pyridoxine-Dependent Epilepsy

Laura A. Jansen, Robert F. Hevner, William H. Roden, Sihoun Hahn, Sunhee Jung, Sidney M. Gospe, Jr.

Ann Neurol. Author manuscript; available in PMC 2015 Jan 2.

Published in final edited form as: Ann Neurol. 2014 Jan; 75(1): 22–32. Published online 2014 Jan 2. doi: 10.1002/ana.24027

PMCID:: PMC3945410

Abstract Article PDF–1.3M

Select item 343220214.

The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency

Eduard A. Struys, Levinus A. Bok, Dina Emal, Saskia Houterman, Michel A. Willemsen, Cornelis Jakobs

J Inherit Metab Dis. 2012; 35(5): 909–916. Published online 2012 Jan 17. doi: 10.1007/s10545-011-9443-0

PMCID:: PMC3432202

Abstract Article PDF–315K

Select item 338755115.

Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity

Chad Brocker, Miriam Cantore, Paola Failli, Vasilis Vasiliou

Chem Biol Interact. Author manuscript; available in PMC 2012 Jul 1.

Published in final edited form as: Chem Biol Interact. 2011 May 30; 191(1-3): 269–277. Published online 2011 Feb 19. doi: 10.1016/j.cbi.2011.02.016

PMCID:: PMC3387551

Abstract Article PDF–2.4M

Select item 319819116.

The aldehyde dehydrogenase enzyme 7A1 is functionally involved in prostate cancer bone metastasis

Christel van den Hoogen, Geertje van der Horst, Henry Cheung, Jeroen T. Buijs, Rob C. M. Pelger, Gabri van der Pluijm

Clin Exp Metastasis. 2011; 28(7): 615–625. Published online 2011 Jun 7. doi: 10.1007/s10585-011-9395-7

PMCID:: PMC3198191

Abstract Article PDF–1.8M

Select item 311235617.

The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1

Gunter Scharer, Chad Brocker, Vasilis Vasiliou, Geralyn Creadon-Swindell, Renata C. Gallagher, Elaine Spector, Johan L. K. Van Hove

J Inherit Metab Dis. Author manuscript; available in PMC 2011 Oct 1.

Published in final edited form as: J Inherit Metab Dis. 2010 Oct; 33(5): 571–581. Published online 2010 Sep 3. doi: 10.1007/s10545-010-9187-2

PMCID:: PMC3112356

Abstract Article PDF–838K

Select item 279436218.

Genome-Wide Association Study Identifies ALDH7A1 as a Novel Susceptibility Gene for Osteoporosis

Yan Guo, Li-Jun Tan, Shu-Feng Lei, Tie-Lin Yang, Xiang-Ding Chen, Feng Zhang, Yuan Chen, Feng Pan, Han Yan, Xiaogang Liu, Qing Tian, Zhi-Xin Zhang, Qi Zhou, Chuan Qiu, Shan-Shan Dong, Xiang-Hong Xu, Yan-Fang Guo, Xue-Zhen Zhu, Shan-Lin Liu, Xiang-Li Wang, Xi Li, Yi Luo, Li-Shu Zhang, Meng Li, Jin-Tang Wang, Ting Wen, Betty Drees, James Hamilton, Christopher J. Papasian, Robert R. Recker, Xiao-Ping Song, Jing Cheng, Hong-Wen Deng

PLoS Genet. 2010 Jan; 6(1): e1000806. Published online 2010 Jan 8. doi: 10.1371/journal.pgen.1000806

PMCID:: PMC2794362

Abstract Article PDF–281K

Select item 208388219.

Pyridoxine‐dependent seizures in Dutch patients: diagnosis by elevated urinary alpha‐aminoadipic semialdehyde levels

Levinus A Bok, Eduard Struys, Michel A A P Willemsen, Jasper V Been, Cornelis Jakobs

Arch Dis Child. 2007 Aug; 92(8): 687–689. Published online 2006 Nov 6. doi: 10.1136/adc.2006.103192

PMCID:: PMC2083882

Abstract Article PDF–130K

Select item 172023120.

Epidemiology of pyridoxine dependent seizures in the Netherlands

J Been, L Bok, P Andriessen, W Renier

Arch Dis Child. 2005 Dec; 90(12): 1293–1296. Published online 2005 Sep 13. doi: 10.1136/adc.2005.075069

PMCID:: PMC1720231

Summary PDF–64K

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