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Items: 1 to 20 of 102

1.

In vivocharacterization of the aspartyl-tRNA synthetase DARS: Homing in on the leukodystrophy HBSL.

Fröhlich D, Suchowerska AK, Spencer ZH, von Jonquieres G, Klugmann CB, Bongers A, Delerue F, Stefen H, Ittner LM, Fath T, Housley GD, Klugmann M.

Neurobiol Dis. 2017 Jan;97(Pt A):24-35. doi: 10.1016/j.nbd.2016.10.008. Epub 2016 Nov 2.

2.

Expression Pattern of the Aspartyl-tRNA Synthetase DARS in the Human Brain.

Fröhlich D, Suchowerska AK, Voss C, He R, Wolvetang E, von Jonquieres G, Simons C, Fath T, Housley GD, Klugmann M.

Front Mol Neurosci. 2018 Mar 20;11:81. doi: 10.3389/fnmol.2018.00081. eCollection 2018.

3.

[DARS mutations responsible for hypomyelination with brain stem and spinal cord involvement and leg spasticity: report of two cases and review of literature].

Zhang J, Liu M, Zhou L, Zhang ZB, Wang JM, Jiang YW, Wu Y.

Zhonghua Er Ke Za Zhi. 2018 Mar 2;56(3):211-215. doi: 10.3760/cma.j.issn.0578-1310.2018.03.011. Review. Chinese.

PMID:
29518832
4.

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE, van der Knaap MS, Wolf NI.

Am J Hum Genet. 2013 May 2;92(5):774-80. doi: 10.1016/j.ajhg.2013.04.006.

5.

DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder.

Wolf NI, Toro C, Kister I, Latif KA, Leventer R, Pizzino A, Simons C, Abbink TE, Taft RJ, van der Knaap MS, Vanderver A.

Neurology. 2015 Jan 20;84(3):226-30. doi: 10.1212/WNL.0000000000001157. Epub 2014 Dec 19.

6.

DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells.

Aradjanski M, Dogan SA, Lotter S, Wang S, Hermans S, Wibom R, Rugarli E, Trifunovic A.

Hum Mol Genet. 2017 Nov 1;26(21):4181-4189. doi: 10.1093/hmg/ddx307.

PMID:
28985337
7.

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.

Curiel J, Rodríguez Bey G, Takanohashi A, Bugiani M, Fu X, Wolf NI, Nmezi B, Schiffmann R, Bugaighis M, Pierson T, Helman G, Simons C, van der Knaap MS, Liu J, Padiath Q, Vanderver A.

Hum Mol Genet. 2017 Nov 15;26(22):4506-4518. doi: 10.1093/hmg/ddx338.

PMID:
28973395
8.

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.

van Berge L, Hamilton EM, Linnankivi T, Uziel G, Steenweg ME, Isohanni P, Wolf NI, Krägeloh-Mann I, Brautaset NJ, Andrews PI, de Jong BA, al Ghamdi M, van Wieringen WN, Tannous BA, Hulleman E, Würdinger T, van Berkel CG, Polder E, Abbink TE, Struys EA, Scheper GC, van der Knaap MS; LBSL Research Group.

Brain. 2014 Apr;137(Pt 4):1019-29. doi: 10.1093/brain/awu026. Epub 2014 Feb 24.

PMID:
24566671
9.
10.

Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways.

van Berge L, Kevenaar J, Polder E, Gaudry A, Florentz C, Sissler M, van der Knaap MS, Scheper GC.

Biochem J. 2013 Mar 1;450(2):345-50. doi: 10.1042/BJ20121564.

PMID:
23216004
13.

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.

Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krägeloh-Mann I, Smeitink JA, Florentz C, Van Coster R, Pronk JC, van der Knaap MS.

Nat Genet. 2007 Apr;39(4):534-9. Epub 2007 Mar 25.

PMID:
17384640
14.

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.

van Berge L, Dooves S, van Berkel CG, Polder E, van der Knaap MS, Scheper GC.

Biochem J. 2012 Feb 1;441(3):955-62. doi: 10.1042/BJ20110795.

PMID:
22023289
15.

A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria.

Messmer M, Florentz C, Schwenzer H, Scheper GC, van der Knaap MS, Maréchal-Drouard L, Sissler M.

Biochem J. 2011 Feb 1;433(3):441-6. doi: 10.1042/BJ20101902.

PMID:
21121901
16.

Distribution of immunoreactive glutamine synthetase in the adult human and mouse brain. Qualitative and quantitative observations with special emphasis on extra-astroglial protein localization.

Bernstein HG, Bannier J, Meyer-Lotz G, Steiner J, Keilhoff G, Dobrowolny H, Walter M, Bogerts B.

J Chem Neuroanat. 2014 Nov;61-62:33-50. doi: 10.1016/j.jchemneu.2014.07.003. Epub 2014 Jul 22.

PMID:
25058171
17.

Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene.

Lin J, Chiconelli Faria E, Da Rocha AJ, Rodrigues Masruha M, Pereira Vilanova LC, Scheper GC, Van der Knaap MS.

J Child Neurol. 2010 Nov;25(11):1425-8. doi: 10.1177/0883073810370897. Epub 2010 May 25.

PMID:
20501884
18.

A mouse model for eukaryotic translation initiation factor 2B-leucodystrophy reveals abnormal development of brain white matter.

Geva M, Cabilly Y, Assaf Y, Mindroul N, Marom L, Raini G, Pinchasi D, Elroy-Stein O.

Brain. 2010 Aug;133(Pt 8):2448-61. doi: 10.1093/brain/awq180.

PMID:
20826436
19.

Repetitive grooming and sensorimotor abnormalities in an ephrin-A knockout model for Autism Spectrum Disorders.

Wurzman R, Forcelli PA, Griffey CJ, Kromer LF.

Behav Brain Res. 2015 Feb 1;278:115-28. doi: 10.1016/j.bbr.2014.09.012. Epub 2014 Oct 2.

20.

Homology of aspartyl- and lysyl-tRNA synthetases.

Gampel A, Tzagoloff A.

Proc Natl Acad Sci U S A. 1989 Aug;86(16):6023-7.

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