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Results: 1 to 20 of 97

1.

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase.

Mitchell J, Paul P, Chen HJ, Morris A, Payling M, Falchi M, Habgood J, Panoutsou S, Winkler S, Tisato V, Hajitou A, Smith B, Vance C, Shaw C, Mazarakis ND, de Belleroche J.

Proc Natl Acad Sci U S A. 2010 Apr 20;107(16):7556-61. doi: 10.1073/pnas.0914128107. Epub 2010 Apr 5.

PMID:
20368421
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Pathogenic effects of amyotrophic lateral sclerosis-linked mutation in D-amino acid oxidase are mediated by D-serine.

Paul P, Murphy T, Oseni Z, Sivalokanathan S, de Belleroche JS.

Neurobiol Aging. 2014 Apr;35(4):876-85. doi: 10.1016/j.neurobiolaging.2013.09.005. Epub 2013 Oct 15.

PMID:
24138986
[PubMed - in process]
3.

D-amino acid oxidase controls motoneuron degeneration through D-serine.

Sasabe J, Miyoshi Y, Suzuki M, Mita M, Konno R, Matsuoka M, Hamase K, Aiso S.

Proc Natl Acad Sci U S A. 2012 Jan 10;109(2):627-32. doi: 10.1073/pnas.1114639109. Epub 2011 Dec 27.

PMID:
22203986
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

The role of D-serine and glycine as co-agonists of NMDA receptors in motor neuron degeneration and amyotrophic lateral sclerosis (ALS).

Paul P, de Belleroche J.

Front Synaptic Neurosci. 2014 Apr 16;6:10. doi: 10.3389/fnsyn.2014.00010. eCollection 2014. Review.

PMID:
24795623
[PubMed]
Free PMC Article
5.

The role of D-amino acids in amyotrophic lateral sclerosis pathogenesis: a review.

Paul P, de Belleroche J.

Amino Acids. 2012 Nov;43(5):1823-31. doi: 10.1007/s00726-012-1385-9. Epub 2012 Aug 14. Review.

PMID:
22890612
[PubMed - indexed for MEDLINE]
6.

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).

Cox LE, Ferraiuolo L, Goodall EF, Heath PR, Higginbottom A, Mortiboys H, Hollinger HC, Hartley JA, Brockington A, Burness CE, Morrison KE, Wharton SB, Grierson AJ, Ince PG, Kirby J, Shaw PJ.

PLoS One. 2010 Mar 24;5(3):e9872. doi: 10.1371/journal.pone.0009872.

PMID:
20352044
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis.

Chen HJ, Anagnostou G, Chai A, Withers J, Morris A, Adhikaree J, Pennetta G, de Belleroche JS.

J Biol Chem. 2010 Dec 17;285(51):40266-81. doi: 10.1074/jbc.M110.161398. Epub 2010 Oct 12.

PMID:
20940299
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Inducible nitric oxide synthase up-regulation in a transgenic mouse model of familial amyotrophic lateral sclerosis.

Almer G, Vukosavic S, Romero N, Przedborski S.

J Neurochem. 1999 Jun;72(6):2415-25.

PMID:
10349851
[PubMed - indexed for MEDLINE]
9.

Protein-bound crotonaldehyde accumulates in the spinal cord of superoxide dismutase-1 mutation-associated familial amyotrophic lateral sclerosis and its transgenic mouse model.

Shibata N, Kawaguchi M, Uchida K, Kakita A, Takahashi H, Nakano R, Fujimura H, Sakoda S, Ihara Y, Nobukuni K, Takehisa Y, Kuroda S, Kokubo Y, Kuzuhara S, Honma T, Mochizuki Y, Mizutani T, Yamada S, Toi S, Sasaki S, Iwata M, Hirano A, Yamamoto T, Kato Y, Sawada T, Kobayashi M.

Neuropathology. 2007 Feb;27(1):49-61.

PMID:
17319283
[PubMed - indexed for MEDLINE]
10.

[Gene mutations in familial amyotrophic lateral sclerosis].

Oda M, Izumi Y, Kaji R.

Brain Nerve. 2011 Feb;63(2):165-70. Review. Japanese.

PMID:
21301041
[PubMed - indexed for MEDLINE]
11.

Redox system expression in the motor neurons in amyotrophic lateral sclerosis (ALS): immunohistochemical studies on sporadic ALS, superoxide dismutase 1 (SOD1)-mutated familial ALS, and SOD1-mutated ALS animal models.

Kato S, Kato M, Abe Y, Matsumura T, Nishino T, Aoki M, Itoyama Y, Asayama K, Awaya A, Hirano A, Ohama E.

Acta Neuropathol. 2005 Aug;110(2):101-12. Epub 2005 Jun 28.

PMID:
15983830
[PubMed - indexed for MEDLINE]
12.

Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-derived tubular aggregates.

Teuling E, Ahmed S, Haasdijk E, Demmers J, Steinmetz MO, Akhmanova A, Jaarsma D, Hoogenraad CC.

J Neurosci. 2007 Sep 5;27(36):9801-15.

PMID:
17804640
[PubMed - indexed for MEDLINE]
Free Article
13.

Non-cell-autonomous effect of human SOD1 G37R astrocytes on motor neurons derived from human embryonic stem cells.

Marchetto MC, Muotri AR, Mu Y, Smith AM, Cezar GG, Gage FH.

Cell Stem Cell. 2008 Dec 4;3(6):649-57. doi: 10.1016/j.stem.2008.10.001.

PMID:
19041781
[PubMed - indexed for MEDLINE]
Free Article
14.

A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.

Al-Saif A, Al-Mohanna F, Bohlega S.

Ann Neurol. 2011 Dec;70(6):913-9. doi: 10.1002/ana.22534. Epub 2011 Aug 12.

PMID:
21842496
[PubMed - indexed for MEDLINE]
15.

Induction of the unfolded protein response in familial amyotrophic lateral sclerosis and association of protein-disulfide isomerase with superoxide dismutase 1.

Atkin JD, Farg MA, Turner BJ, Tomas D, Lysaght JA, Nunan J, Rembach A, Nagley P, Beart PM, Cheema SS, Horne MK.

J Biol Chem. 2006 Oct 6;281(40):30152-65. Epub 2006 Jul 17.

PMID:
16847061
[PubMed - indexed for MEDLINE]
Free Article
16.

Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene.

Giess R, Holtmann B, Braga M, Grimm T, Müller-Myhsok B, Toyka KV, Sendtner M.

Am J Hum Genet. 2002 May;70(5):1277-86. Epub 2002 Apr 9.

PMID:
11951178
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Astrocytes from familial and sporadic ALS patients are toxic to motor neurons.

Haidet-Phillips AM, Hester ME, Miranda CJ, Meyer K, Braun L, Frakes A, Song S, Likhite S, Murtha MJ, Foust KD, Rao M, Eagle A, Kammesheidt A, Christensen A, Mendell JR, Burghes AH, Kaspar BK.

Nat Biotechnol. 2011 Aug 10;29(9):824-8. doi: 10.1038/nbt.1957.

PMID:
21832997
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Impaired extracellular secretion of mutant superoxide dismutase 1 associates with neurotoxicity in familial amyotrophic lateral sclerosis.

Turner BJ, Atkin JD, Farg MA, Zang DW, Rembach A, Lopes EC, Patch JD, Hill AF, Cheema SS.

J Neurosci. 2005 Jan 5;25(1):108-17.

PMID:
15634772
[PubMed - indexed for MEDLINE]
Free Article
19.

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.

Wu CH, Fallini C, Ticozzi N, Keagle PJ, Sapp PC, Piotrowska K, Lowe P, Koppers M, McKenna-Yasek D, Baron DM, Kost JE, Gonzalez-Perez P, Fox AD, Adams J, Taroni F, Tiloca C, Leclerc AL, Chafe SC, Mangroo D, Moore MJ, Zitzewitz JA, Xu ZS, van den Berg LH, Glass JD, Siciliano G, Cirulli ET, Goldstein DB, Salachas F, Meininger V, Rossoll W, Ratti A, Gellera C, Bosco DA, Bassell GJ, Silani V, Drory VE, Brown RH Jr, Landers JE.

Nature. 2012 Aug 23;488(7412):499-503. doi: 10.1038/nature11280.

PMID:
22801503
[PubMed - indexed for MEDLINE]
Free PMC Article

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