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Select item 54316631.

Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines

Xiao Mao, Kai Li, Beisha Tang, Yang Luo, Dongxue Ding, Yuwen Zhao, Chunrong Wang, Xiaoting Zhou, Zhenhua Liu, Yuan Zhang, Puzhi Wang, Qian Xu, Qiying Sun, Kun Xia, Xinxiang Yan, Hong Jiang, Shen Lu, Jifeng Guo

Sci Rep. 2017; 7: 1625. Published online 2017 May 9. doi: 10.1038/s41598-017-01637-z

PMCID:: PMC5431663

Abstract Article PDF–1.6M

Select item 3849702.

Mutation of a Nuclear Respiratory Factor 2 Binding Site in the 5′ Untranslated Region of the ADSL Gene in Three Patients with Adenylosuccinate Lyase Deficiency

S. Marie, V. Race, M.-C. Nassogne, M.-F. Vincent, G. Van den Berghe

Am J Hum Genet. 2002 Jul; 71(1): 14–21. Published online 2002 May 9. doi: 10.1086/341036

PMCID:: PMC384970

Abstract Article PDF–292K

Select item 29859503.

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

Cyril Gitiaux, Irène Ceballos-Picot, Sandrine Marie, Vassili Valayannopoulos, Marlène Rio, Séverine Verrieres, Jean François Benoist, Marie Françoise Vincent, Isabelle Desguerre, Nadia Bahi-Buisson

Eur J Hum Genet. 2009 Jan; 17(1): 133–136. Published online 2008 Oct 1. doi: 10.1038/ejhg.2008.174

PMCID:: PMC2985950

Abstract Article PDF–101K

Select item 30659634.

Molecular characterization of the AdeI mutant of Chinese hamster ovary Cells: a cellular model of adenylosuccinate lyase deficiency

Lydia K. Vliet, Terry G. Wilkinson, II, Nathan Duval, Guido Vacano, Christine Graham, Marie Zikánová, Vaclava Skopova, Veronika Baresova, Aleš Hnízda, Stanislav Kmoch, David Patterson

Mol Genet Metab. Author manuscript; available in PMC 2012 Jan 1.

Published in final edited form as: Mol Genet Metab. 2011 Jan; 102(1): 61–68. doi: 10.1016/j.ymgme.2010.08.022

PMCID:: PMC3065963

Abstract Article PDF–1.3M

Select item 33773515.

Progress Towards Simple and Direct Detection of Adenylosuccinate Lyase Deficiency in Human Urine

Soojin Lim, Mark Lowry, Robert M. Strongin

Aust J Chem. Author manuscript; available in PMC 2012 Jun 18.

Published in final edited form as: Aust J Chem. 2011 Oct 14; 64(11): 1470–1473. doi: 10.1071/CH11328

PMCID:: PMC3377351

Abstract Article PDF–1.3M

Select item 43410136.

Adenylosuccinate lyase deficiency

Agnieszka Jurecka, Marie Zikanova, Stanislav Kmoch, Anna Tylki-Szymańska

J Inherit Metab Dis. 2015; 38(2): 231–242. Published online 2014 Aug 12. doi: 10.1007/s10545-014-9755-y

PMCID:: PMC4341013

Abstract Article PDF–918K

Select item 49692607.

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Taraka R. Donti, Gerarda Cappuccio, Leroy Hubert, Juanita Neira, Paldeep S. Atwal, Marcus J. Miller, Aaron L. Cardon, V. Reid Sutton, Brenda E. Porter, Fiona M. Baumer, Michael F. Wangler, Qin Sun, Lisa T. Emrick, Sarah H. Elsea

Mol Genet Metab Rep. 2016 Sep; 8: 61–66. Published online 2016 Jul 27. doi: 10.1016/j.ymgmr.2016.07.007

PMCID:: PMC4969260

Abstract Article PDF–536K

Select item 50253218.

Novel Proton MR Spectroscopy Findings in Adenylosuccinate Lyase Deficiency

Maria Zulfiqar, Doris D.M. Lin, Marinette Van der Graaf, Peter B. Barker, Jill A. Fahrner, Sandrine Marie, Eva Morava, Lonneke De Boer, Michel A.A.P Willemsen, Eileen Vining, Alena Horská, Udo Engelke, Ron A. Wevers, Gustavo H.B. Maegawa

J Magn Reson Imaging. Author manuscript; available in PMC 2016 Sep 15.

Published in final edited form as: J Magn Reson Imaging. 2013 Apr; 37(4): 974–980. Published online 2012 Oct 10. doi: 10.1002/jmri.23852

PMCID:: PMC5025321

Abstract Article PDF–537K

Select item 105666849.

Adenylosuccinate lyase deficiency affects neurobehavior via perturbations to tyramine signaling in Caenorhabditis elegans

Corinna A. Moro, Sabrina A. Sony, Latisha P. Franklin, Shirley Dong, Mia M. Peifer, Kathryn E. Wittig, Wendy Hanna-Rose

PLoS Genet. 2023 Sep; 19(9): e1010974. Published online 2023 Sep 29. doi: 10.1371/journal.pgen.1010974

PMCID:: PMC10566684

Abstract Article PDF–1.9M

Select item 554173410.

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

Marina Macchiaiolo, Sabina Barresi, Francesco Cecconi, Ginevra Zanni, Marcello Niceta, Emanuele Bellacchio, Giacomo Lazzarino, Angela Maria Amorini, Enrico Silvio Bertini, Salvatore Rizza, Benedetta Contardi, Marco Tartaglia, Andrea Bartuli

Ital J Pediatr. 2017; 43: 65. Published online 2017 Aug 2. doi: 10.1186/s13052-017-0383-7

PMCID:: PMC5541734

Abstract Article PDF–770K

Select item 626045911.

MRI findings of hypomyelination in adenylosuccinate lyase deficiency

Samar Kayfan, Rana M. Yazdani, Samantha Castillo, Kevin Wong, Jeffrey H. Miller, Cory M. Pfeifer

Radiol Case Rep. 2019 Feb; 14(2): 255–259. Published online 2018 Nov 22. doi: 10.1016/j.radcr.2018.11.001

PMCID:: PMC6260459

Abstract Article PDF–1.0M

Select item 671384212.

Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis

Mario Mastrangelo, Chiara Alfonsi, Isabella Screpanti, Laura Masuelli, Barbara Tavazzi, Davide Mei, Flavia Giannotti, Renzo Guerrini, Vincenzo Leuzzi

Mol Genet Metab Rep. 2019 Dec; 21: 100502. Published online 2019 Aug 21. doi: 10.1016/j.ymgmr.2019.100502

PMCID:: PMC6713842

Abstract Article PDF–1.5M

Select item 721059613.

Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype

Marina Macchiaiolo, Paola Sabrina Buonuomo, Gerarda Mastrogiorgio, Matteo Bordi, Beatrice Testa, Gerrit Weber, Emanuele Bellacchio, Marco Tartaglia, Francesco Cecconi, Andrea Bartuli

Mol Genet Metab Rep. 2020 Jun; 23: 100592. Published online 2020 May 6. doi: 10.1016/j.ymgmr.2020.100592

PMCID:: PMC7210596

Abstract Article PDF–330K

Select item 791930814.

Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency

Gerarda Mastrogiorgio, Marina Macchiaiolo, Paola Sabrina Buonuomo, Emanuele Bellacchio, Matteo Bordi, Davide Vecchio, Kari Payne Brown, Natalie Karen Watson, Benedetta Contardi, Francesco Cecconi, Marco Tartaglia, Andrea Bartuli

Orphanet J Rare Dis. 2021; 16: 112. Published online 2021 Mar 1. doi: 10.1186/s13023-021-01731-6

PMCID:: PMC7919308

Abstract Article PDF–1008K

Select item 963116215.

Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene: A case report

Xing-Chen Wang, Ting Wang, Rui-Han Liu, Yan Jiang, Dan-Dan Chen, Xin-Yu Wang, Qing-Xia Kong

World J Clin Cases. 2022 Oct 26; 10(30): 11082–11089. Published online 2022 Oct 26. doi: 10.12998/wjcc.v10.i30.11082

PMCID:: PMC9631162

Abstract Article PDF–6.7M

Select item 673121016.

The CRISPR-Cas9 crADSL HeLa transcriptome: A first step in establishing a model for ADSL deficiency and SAICAR accumulation

Randall C. Mazzarino, Veronika Baresova, Marie Zikánová, Nathan Duval, Terry G. Wilkinson, II, David Patterson, Guido N. Vacano

Mol Genet Metab Rep. 2019 Dec; 21: 100512. Published online 2019 Sep 4. doi: 10.1016/j.ymgmr.2019.100512

PMCID:: PMC6731210

Abstract Article PDF–960K

Select item 1009170017.

Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy

Spatikha Sitaram, Hetalika C. Banka, Grace Vassallo, Julija Pavaine, Adele Fairclough, Ronnie Wright, Lynette Fairbanks, Jörgen Bierau, Lydia Bowden, Bernd Schwahn, Alistair Horman, Siddharth Banka

Am J Med Genet A. 2023 Jan; 191(1): 234–237. Published online 2022 Oct 22. doi: 10.1002/ajmg.a.62999

PMCID:: PMC10091700

Abstract Article PDF–698K

Select item 887137618.

Pathway-specific effects of ADSL deficiency on neurodevelopment

Ilaria Dutto, Julian Gerhards, Antonio Herrera, Olga Souckova, Václava Škopová, Jordann A Smak, Alexandra Junza, Oscar Yanes, Cedric Boeckx, Martin D Burkhalter, Marie Zikánová, Sebastian Pons, Melanie Philipp, Jens Lüders, Travis H Stracker

eLife. 2022; 11: e70518. Published online 2022 Feb 8. doi: 10.7554/eLife.70518

PMCID:: PMC8871376

Abstract Article PDF–19M

Select item 342437719.

Structural and Biochemical Characterization of Human Adenylosuccinate Lyase (ADSL) and the R303C ADSL Deficiency Associated Mutation

Stephen P. Ray, Michelle K. Deaton, Glenn C. Capodagli, Lauren A. F. Calkins, Lucas Sawle, Kingshuk Ghosh, David Patterson, Scott D. Pegan

Biochemistry. Author manuscript; available in PMC 2013 Aug 21.

Published in final edited form as: Biochemistry. 2012 Aug 21; 51(33): 6701–6713. Published online 2012 Aug 7. doi: 10.1021/bi300796y

PMCID:: PMC3424377

Abstract Article PDF–3.8M

Select item 121906720.

Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man.

R Curto, E O Voit, M Cascante

Biochem J. 1998 Feb 1; 329(Pt 3): 477–487. doi: 10.1042/bj3290477

PMCID:: PMC1219067

Summary PDF–630K

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PMC Articles for MedGen (Select 78641) (33)
PMC
UbiA family prenyltransferase [Aquiluna sp. KACHI24]
UbiA family prenyltransferase [Aquiluna sp. KACHI24]
gi|2326700594|ref|WP_264785613.1|

Protein
Rv3235 family protein [Aquiluna sp. KACHI24]
Rv3235 family protein [Aquiluna sp. KACHI24]
gi|2326700868|ref|WP_264785887.1|

Protein
twin-arginine translocase TatA/TatE family subunit [Aquiluna sp. KACHI24]
twin-arginine translocase TatA/TatE family subunit [Aquiluna sp. KACHI24]
gi|2326701163|ref|WP_264786181.1|

Protein
preprotein translocase subunit SecF [Vibrio fischeri MJ11]
preprotein translocase subunit SecF [Vibrio fischeri MJ11]
gi|197335732|gnl|REF_jcvi|cds.VFMJ1 2|ref|YP_002155636.1|

Protein

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