PMC Articles for MedGen (Select 816301) - PMC

Elizabeth Emma Palmer, Jaclyn Hayner, Rani Sachdev, Michael Cardamone, Tejaswi Kandula, Paula Morris, Kerith-Rae Dias, Jiang Tao, David Miller, Ying Zhu, Rebecca Macintosh, Marcel E. Dinger, Mark J. Cowley, Michael F. Buckley, Tony Roscioli, Ann Bye, Michael S. Kilberg, Edwin P. Kirk

Mol Genet Metab. Author manuscript; available in PMC 2023 May 2.

Published in final edited form as: Mol Genet Metab. 2015 Nov; 116(3): 178–186. Published online 2015 Aug 14. doi: 10.1016/j.ymgme.2015.08.007

PMCID:: PMC10152381

Abstract Article PDF–1.1M

Select item 101456755.

Metabolomic Profiling of Asparagine Deprivation in Asparagine Synthetase Deficiency Patient-Derived Cells

Mario C. Chang, Stephen J. Staklinski, Vinay R. Malut, Geraldine L. Pierre, Michael S. Kilberg, Matthew E. Merritt

Nutrients. 2023 Apr; 15(8): 1938. Published online 2023 Apr 18. doi: 10.3390/nu15081938

PMCID:: PMC10145675

Abstract Article PDF–4.7M

Select item 99814216.

Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines

Stephen J. Staklinski, Mario C. Chang, Rebecca C. Ahrens‐Nicklas, Shagun Kaur, Arianna K. Stefanatos, Elizabeth E. Dudenhausen, Matthew E. Merritt, Michael S. Kilberg

JIMD Rep. 2023 Mar; 64(2): 167–179. Published online 2023 Jan 5. doi: 10.1002/jmd2.12356

PMCID:: PMC9981421

Abstract Article PDF–2.6M

Select item 98200697.

Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency

Stephen J. Staklinski, Sarah Snanoudj, Anne-Marie Guerrot, Catherine Vanhulle, François Lecoquierre, Soumeya Bekri, Michael S. Kilberg

Int J Mol Sci. 2023 Jan; 24(1): 559. Published online 2022 Dec 29. doi: 10.3390/ijms24010559

PMCID:: PMC9820069

Abstract Article PDF–1.8M

Select item 94784018.

Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency

Stephen J. Staklinski, Mario C. Chang, Fang Yu, Kathleen Collins Ruff, David N. Franz, Zhijian Qian, Linda B. Bloom, Matthew E. Merritt, Robert McKenna, Michael S. Kilberg

J Biol Chem. 2022 Sep; 298(9): 102385. Published online 2022 Aug 17. doi: 10.1016/j.jbc.2022.102385

PMCID:: PMC9478401

Abstract Article PDF–4.0M

Select item 72840419.

A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency

Chun Wang, Guiyuan He, Yusong Ge, Runjie Li, Zhenguo Li, Yongzhong Lin

Mol Genet Genomic Med. 2020 Jun; 8(6): e1235. Published online 2020 Apr 7. doi: 10.1002/mgg3.1235

PMCID:: PMC7284041

Abstract Article PDF–1.2M

Select item 683893110.

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

Marie Faoucher, Anne-Lise Poulat, Nicolas Chatron, Audrey Labalme, Caroline Schluth-Bolard, Marianne Till, Christine Vianey-Saban, Vincent Des Portes, Patrick Edery, Damien Sanlaville, Gaëtan Lesca, Cécile Acquaviva

Mol Genet Metab Rep. 2019 Dec; 21: 100509. Published online 2019 Nov 1. doi: 10.1016/j.ymgmr.2019.100509

PMCID:: PMC6838931

Abstract Article PDF–676K

Select item 583259911.

Characterization of a Novel Variant in Siblings with Asparagine Synthetase Deficiency

Stephanie J. Sacharow, Elizabeth E. Dudenhausen, Carrie L. Lomelino, Lance Rodan, Christelle Moufawad El Achkar, Heather E. Olson, Casie A Genetti, Pankaj B. Agrawal, Robert McKenna, Michael S. Kilberg

Mol Genet Metab. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: Mol Genet Metab. 2018 Mar; 123(3): 317–325. Published online 2017 Dec 20. doi: 10.1016/j.ymgme.2017.12.433

PMCID:: PMC5832599

Abstract Article PDF–944K

Select item 577192912.

Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency

Avinash Abhyankar, Michelle Lamendola‐Essel, Kelly Brennan, Jessica L. Giordano, Cecilia Esteves, Vanessa Felice, Ronald Wapner, Vaidehi Jobanputra

Clin Case Rep. 2018 Jan; 6(1): 200–205. Published online 2017 Dec 15. doi: 10.1002/ccr3.1284

PMCID:: PMC5771929

Abstract Article PDF–191K

Select item 550954713.

Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype

Jun Sun, Angela J McGillivray, Jason Pinner, Zhihui Yan, Fengxia Liu, Drago Bratkovic, Elizabeth Thompson, Xiuxiu Wei, Huifeng Jiang, Asan, Maya Chopra

JIMD Rep. 2017; 34: 1–9. Published online 2016 Jul 27. doi: 10.1007/8904_2016_3

PMCID:: PMC5509547

Abstract Article PDF–614K

Select item 491586114.

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

Salma Ben-Salem, Joseph G. Gleeson, Aisha M. Al-Shamsi, Barira Islam, Jozef Hertecant, Bassam R. Ali, Lihadh Al-Gazali

Metab Brain Dis. Author manuscript; available in PMC 2016 Jun 21.

Published in final edited form as: Metab Brain Dis. 2015 Jun; 30(3): 687–694. Published online 2014 Sep 17. doi: 10.1007/s11011-014-9618-0

PMCID:: PMC4915861

Abstract Article PDF–281K

Select item 448627015.

Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism

Majid Alfadhel, Muhammad Talal Alrifai, Daniel Trujillano, Hesham Alshaalan, Ali Al Othaim, Shatha Al Rasheed, Hussam Assiri, Abdulrhman A. Alqahtani, Manal Alaamery, Arndt Rolfs, Wafaa Eyaid

JIMD Rep. 2015; 22: 11–16. Published online 2015 Feb 8. doi: 10.1007/8904_2014_405

PMCID:: PMC4486270

Abstract Article PDF–291K

Select item 1097642216.

A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review

Mohammad Jahanpanah, Diana Mokhtari, Haleh Mokaber, Sara Arish, Farzad Ahmadabadi, Behzad Davarnia

Mol Genet Genomic Med. 2024 Apr; 12(4): e2424. Published online 2024 Mar 28. doi: 10.1002/mgg3.2424

PMCID:: PMC10976422

Abstract Article PDF–1.8M

Select item 572398317.

Asparagine synthetase: Function, structure, and role in disease

Carrie L. Lomelino, Jacob T. Andring, Robert McKenna, Michael S. Kilberg

J Biol Chem. 2017 Dec 8; 292(49): 19952–19958. Published online 2017 Oct 30. doi: 10.1074/jbc.R117.819060

PMCID:: PMC5723983

Abstract Article PDF–1.9M

Select item 494727418.

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report

Mohammed Zain Seidahmed, Mustafa A. Salih, Omer B. Abdulbasit, Abdulmohsen Samadi, Khalid Al Hussien, Abeer M. Miqdad, Maha S. Biary, Anas M. Alazami, Ibrahim A. Alorainy, Mohammad M. Kabiraj, Ranad Shaheen, Fowzan S. Alkuraya

BMC Neurol. 2016; 16: 105. Published online 2016 Jul 15. doi: 10.1186/s12883-016-0633-0

PMCID:: PMC4947274

Abstract Article PDF–1.4M

Select item 382036819.

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

Elizabeth K. Ruzzo, José-Mario Capo-Chichi, Bruria Ben-Zeev, David Chitayat, Hanqian Mao, Andrea L. Pappas, Yuki Hitomi, Yi-Fan Lu, Xiaodi Yao, Fadi F. Hamdan, Kimberly Pelak, Haike Reznik-Wolf, Ifat Bar-Joseph, Danit Oz-Levi, Dorit Lev, Tally Lerman-Sagie, Esther Leshinsky-Silver, Yair Anikster, Edna Ben-Asher, Tsviya Olender, Laurence Colleaux, Jean-Claude Décarie, Susan Blaser, Brenda Banwell, Rasesh B. Joshi, Xiao-Ping He, Lysanne Patry, Rachel J. Silver, Sylvia Dobrzeniecka, Mohammad S. Islam, Abul Hasnat, Mark E. Samuels, Dipendra K. Aryal, Ramona M. Rodriguiz, Yong-hui Jiang, William C. Wetsel, James O. McNamara, Guy A. Rouleau, Debra L. Silver, Doron Lancet, Elon Pras, Grant A. Mitchell, Jacques L. Michaud, David B. Goldstein

Neuron. Author manuscript; available in PMC 2014 Oct 16.

Published in final edited form as: Neuron. 2013 Oct 16; 80(2): 10.1016/j.neuron.2013.08.013. doi: 10.1016/j.neuron.2013.08.013

PMCID:: PMC3820368

Abstract Article PDF–1.7M

Select item 1053633420.

Aspartic Acid in Health and Disease

Milan Holeček

Nutrients. 2023 Sep; 15(18): 4023. Published online 2023 Sep 17. doi: 10.3390/nu15184023

PMCID:: PMC10536334

Abstract Article PDF–4.0M

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