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Items: 12

1.

Asparagine synthetase: Function, structure, and role in disease.

Lomelino CL, Andring JT, McKenna R, Kilberg MS.

J Biol Chem. 2017 Dec 8;292(49):19952-19958. doi: 10.1074/jbc.R117.819060. Epub 2017 Oct 30. Review.

2.

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

Gupta N, Tewari VV, Kumar M, Langeh N, Gupta A, Mishra P, Kaur P, Ramprasad V, Murugan S, Kumar R, Jana M, Kabra M.

Metab Brain Dis. 2017 Dec;32(6):1889-1900. doi: 10.1007/s11011-017-0073-6. Epub 2017 Aug 3. Review. Erratum in: Metab Brain Dis. 2017 Sep 5;:.

PMID:
28776279
3.

The first report of Japanese patients with asparagine synthetase deficiency.

Yamamoto T, Endo W, Ohnishi H, Kubota K, Kawamoto N, Inui T, Imamura A, Takanashi JI, Shiina M, Saitsu H, Ogata K, Matsumoto N, Haginoya K, Fukao T.

Brain Dev. 2017 Mar;39(3):236-242. doi: 10.1016/j.braindev.2016.09.010. Epub 2016 Oct 12.

PMID:
27743885
4.

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

Gataullina S, Lauer-Zillhardt J, Kaminska A, Galmiche-Rolland L, Bahi-Buisson N, Pontoizeau C, Ottolenghi C, Dulac O, Fallet-Bianco C.

Neuropediatrics. 2016 Dec;47(6):399-403. Epub 2016 Aug 14.

PMID:
27522229
5.

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

Seidahmed MZ, Salih MA, Abdulbasit OB, Samadi A, Al Hussien K, Miqdad AM, Biary MS, Alazami AM, Alorainy IA, Kabiraj MM, Shaheen R, Alkuraya FS.

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

6.

Worsening of Seizures After Asparagine Supplementation in a Child with Asparagine Synthetase Deficiency.

Alrifai MT, Alfadhel M.

Pediatr Neurol. 2016 May;58:98-100. doi: 10.1016/j.pediatrneurol.2016.01.024.

PMID:
27268761
7.

Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.

Collardeau-Frachon S, Cordier MP, Rossi M, Guibaud L, Vianey-Saban C.

J Inherit Metab Dis. 2016 Sep;39(5):597-610. doi: 10.1007/s10545-016-9937-x. Epub 2016 Apr 22. Review.

PMID:
27106218
8.

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

Palmer EE, Hayner J, Sachdev R, Cardamone M, Kandula T, Morris P, Dias KR, Tao J, Miller D, Zhu Y, Macintosh R, Dinger ME, Cowley MJ, Buckley MF, Roscioli T, Bye A, Kilberg MS, Kirk EP.

Mol Genet Metab. 2015 Nov;116(3):178-86. doi: 10.1016/j.ymgme.2015.08.007. Epub 2015 Aug 14.

PMID:
26318253
9.

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

Ben-Salem S, Gleeson JG, Al-Shamsi AM, Islam B, Hertecant J, Ali BR, Al-Gazali L.

Metab Brain Dis. 2015 Jun;30(3):687-94. doi: 10.1007/s11011-014-9618-0. Epub 2014 Sep 17.

10.

Deficiency in asparagine synthetase expression in rectal cancers receiving concurrent chemoradiotherapy: negative prognostic impact and therapeutic relevance.

Lin CY, Sheu MJ, Li CF, Lee SW, Lin LC, Wang YF, Chen SH.

Tumour Biol. 2014 Jul;35(7):6823-30. doi: 10.1007/s13277-014-1895-z. Epub 2014 Apr 13.

PMID:
24729124
11.

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

Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, D├ęcarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL, Goldstein DB.

Neuron. 2013 Oct 16;80(2):429-41. doi: 10.1016/j.neuron.2013.08.013.

12.

Pancreatic tumor sensitivity to plasma L-asparagine starvation.

Dufour E, Gay F, Aguera K, Scoazec JY, Horand F, Lorenzi PL, Godfrin Y.

Pancreas. 2012 Aug;41(6):940-8. doi: 10.1097/MPA.0b013e318247d903.

PMID:
22513289

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