Literature DB >> 29405484

Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature.

Chelna Galada1, Malavika Hebbar1, Leslie Lewis2, Santosh Soans3, Rajagopal Kadavigere4, Anshika Srivastava5, Stephanie Bielas5, Katta M Girisha1, Anju Shukla1.   

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Year:  2018        PMID： 29405484      PMCID： PMC6338226          DOI： 10.1111/cga.12275

Source DB:  PubMed          Journal:  Congenit Anom (Kyoto)        ISSN： 0914-3505            Impact factor:   1.409


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  9 in total

1.  Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

Authors:  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
Journal:  Mol Genet Metab       Date:  2015-08-14       Impact factor: 4.797

2.  Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.

Authors:  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
Journal:  JIMD Rep       Date:  2015-02-08

Review 3.  Asparagine Synthetase deficiency-report of a novel mutation and review of literature.

Authors:  Neerja Gupta; Vishal Vishnu Tewari; Manoj Kumar; Nitika Langeh; Aditi Gupta; Pallavi Mishra; Punit Kaur; Vedam Ramprasad; Sakthivel Murugan; Reema Kumar; Manisha Jana; Madhulika Kabra
Journal:  Metab Brain Dis       Date:  2017-08-03       Impact factor: 3.584

4.  The first report of Japanese patients with asparagine synthetase deficiency.

Authors:  Takahiro Yamamoto; Wakaba Endo; Hidenori Ohnishi; Kazuo Kubota; Norio Kawamoto; Takehiko Inui; Atsushi Imamura; Jun-Ichi Takanashi; Masaaki Shiina; Hirotomo Saitsu; Kazuhiro Ogata; Naomichi Matsumoto; Kazuhiro Haginoya; Toshiyuki Fukao
Journal:  Brain Dev       Date:  2016-10-12       Impact factor: 1.961

5.  Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy.

Authors:  Svetlana Gataullina; Julia Lauer-Zillhardt; Anna Kaminska; Louise Galmiche-Rolland; Nadia Bahi-Buisson; Clément Pontoizeau; Chris Ottolenghi; Olivier Dulac; Catherine Fallet-Bianco
Journal:  Neuropediatrics       Date:  2016-08-14       Impact factor: 1.947

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

Authors:  Jun Sun; Angela J McGillivray; Jason Pinner; Zhihui Yan; Fengxia Liu; Drago Bratkovic; Elizabeth Thompson; Xiuxiu Wei; Huifeng Jiang; Maya Chopra
Journal:  JIMD Rep       Date:  2016-07-27

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

Authors:  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
Journal:  Neuron       Date:  2013-10-16       Impact factor: 17.173

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

Authors:  Salma Ben-Salem; Joseph G Gleeson; Aisha M Al-Shamsi; Barira Islam; Jozef Hertecant; Bassam R Ali; Lihadh Al-Gazali
Journal:  Metab Brain Dis       Date:  2014-09-17       Impact factor: 3.584

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

Authors:  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
Journal:  BMC Neurol       Date:  2016-07-15       Impact factor: 2.474
  9 in total
  4 in total

1.  Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly.

Authors:  Dorit Schleinitz; Anna Seidel; Ruth Stassart; Jürgen Klammt; Petra G Hirrlinger; Ulrike Winkler; Susanne Köhler; John T Heiker; Ria Schönauer; Joanna Bialek; Knut Krohn; Katrin Hoffmann; Peter Kovacs; Johannes Hirrlinger
Journal:  Front Genet       Date:  2018-07-13       Impact factor: 4.599

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

Authors:  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
Journal:  Mol Genet Metab Rep       Date:  2019-11-01

Review 3.  A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency.

Authors:  Chun Wang; Guiyuan He; Yusong Ge; Runjie Li; Zhenguo Li; Yongzhong Lin
Journal:  Mol Genet Genomic Med       Date:  2020-04-07       Impact factor: 2.183

4.  Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.

Authors:  Parneet Kaur; Michelle C do Rosario; Malavika Hebbar; Suvasini Sharma; Neethukrishna Kausthubham; Karthik Nair; Shrikiran A; Ramesh Bhat Y; Leslie Edward S Lewis; Sheela Nampoothiri; Siddaramappa J Patil; Narayanaswami Suresh; Sunita Bijarnia Mahay; Ratna Dua Puri; Shivanand Pai; Anupriya Kaur; Rakshith Kc; Nutan Kamath; Shruti Bajaj; Ali Kumble; Rajesh Shetty; Rathika Shenoy; Mahesh Kamate; Hitesh Shah; Mamta N Muranjan; Yatheesha Bl; K Shreedhara Avabratha; Girish Subramaniam; Rajagopal Kadavigere; Stephanie Bielas; Katta Mohan Girisha; Anju Shukla
Journal:  Clin Genet       Date:  2021-07-30       Impact factor: 4.438
  4 in total

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