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Items: 1 to 20 of 78

1.

FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.

Osmanovic A, Rangnau I, Kosfeld A, Abdulla S, Janssen C, Auber B, Raab P, Preller M, Petri S, Weber RG.

Eur J Hum Genet. 2017 Feb;25(3):324-331. doi: 10.1038/ejhg.2016.186. Epub 2017 Jan 4.

PMID:
28051077
2.

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.

Krüger S, Battke F, Sprecher A, Munz M, Synofzik M, Schöls L, Gasser T, Grehl T, Prudlo J, Biskup S.

Front Mol Neurosci. 2016 Oct 13;9:92. eCollection 2016.

3.

PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models.

Sabha N, Volpatti JR, Gonorazky H, Reifler A, Davidson AE, Li X, Eltayeb NM, Dall'Armi C, Di Paolo G, Brooks SV, Buj-Bello A, Feldman EL, Dowling JJ.

J Clin Invest. 2016 Sep 1;126(9):3613-25. doi: 10.1172/JCI86841. Epub 2016 Aug 22.

4.

Common and Divergent Mechanisms in Developmental Neuronal Remodeling and Dying Back Neurodegeneration.

Yaron A, Schuldiner O.

Curr Biol. 2016 Jul 11;26(13):R628-39. doi: 10.1016/j.cub.2016.05.025. Review.

PMID:
27404258
5.

Defective phosphoinositide metabolism in autism.

Gross C.

J Neurosci Res. 2017 May;95(5):1161-1173. doi: 10.1002/jnr.23797. Epub 2016 Jul 4. Review.

PMID:
27376697
6.

A novel imaging method revealed phosphatidylinositol 3,5-bisphosphate-rich domains in the endosome/lysosome membrane.

Takatori S, Fujimoto T.

Commun Integr Biol. 2016 Feb 22;9(2):e1145319. doi: 10.1080/19420889.2016.1145319. eCollection 2016 Mar-Apr.

7.

A cell-permeable tool for analysing APP intracellular domain function and manipulation of PIKfyve activity.

Guscott B, Balklava Z, Safrany ST, Wassmer T.

Biosci Rep. 2016 Apr 15;36(2). pii: e00319. doi: 10.1042/BSR20160040. Print 2016.

8.

Toward precision medicine in amyotrophic lateral sclerosis.

Zou ZY, Liu CY, Che CH, Huang HP.

Ann Transl Med. 2016 Jan;4(2):27. doi: 10.3978/j.issn.2305-5839.2016.01.16. Review.

9.

Phosphatidylinositol 3,5-bisphosphate: regulation of cellular events in space and time.

Jin N, Lang MJ, Weisman LS.

Biochem Soc Trans. 2016 Feb;44(1):177-84. doi: 10.1042/BST20150174. Review.

10.

Genotype-phenotype correlations of amyotrophic lateral sclerosis.

Li HF, Wu ZY.

Transl Neurodegener. 2016 Feb 3;5:3. doi: 10.1186/s40035-016-0050-8. eCollection 2016. Review.

11.

FIG4 regulates lysosome membrane homeostasis independent of phosphatase function.

Bharadwaj R, Cunningham KM, Zhang K, Lloyd TE.

Hum Mol Genet. 2016 Feb 15;25(4):681-92. doi: 10.1093/hmg/ddv505. Epub 2015 Dec 11.

12.

Familial Amyotrophic Lateral Sclerosis.

Boylan K.

Neurol Clin. 2015 Nov;33(4):807-30. doi: 10.1016/j.ncl.2015.07.001. Epub 2015 Sep 8. Review.

13.

A perspective on stem cell modeling of amyotrophic lateral sclerosis.

de Boer AS, Eggan K.

Cell Cycle. 2015;14(23):3679-88. doi: 10.1080/15384101.2015.1093712. Review.

14.

The Protein Complex of Neurodegeneration-related Phosphoinositide Phosphatase Sac3 and ArPIKfyve Binds the Lewy Body-associated Synphilin-1, Preventing Its Aggregation.

Ikonomov OC, Sbrissa D, Compton LM, Kumar R, Tisdale EJ, Chen X, Shisheva A.

J Biol Chem. 2015 Nov 20;290(47):28515-29. doi: 10.1074/jbc.M115.669929. Epub 2015 Sep 24.

15.

Perturbation of the Vacuolar ATPase: A NOVEL CONSEQUENCE OF INOSITOL DEPLETION.

Deranieh RM, Shi Y, Tarsio M, Chen Y, McCaffery JM, Kane PM, Greenberg ML.

J Biol Chem. 2015 Nov 13;290(46):27460-72. doi: 10.1074/jbc.M115.683706. Epub 2015 Aug 31.

16.

Autophagy and Neurodegeneration: Insights from a Cultured Cell Model of ALS.

Navone F, Genevini P, Borgese N.

Cells. 2015 Aug 6;4(3):354-86. doi: 10.3390/cells4030354. Review.

17.

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, Slavotinek A, Reitnauer PJ, Goksungur MT, Shy M, Crawford TO, Koenig M, Willer J, Flores BN, Pediaditrakis I, Us O, Wiszniewski W, Parman Y, Antonellis A, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics., Katsanis N, Battaloglu E, Boerwinkle E, Gibbs RA, Lupski JR.

Cell Rep. 2015 Aug 18;12(7):1169-83. doi: 10.1016/j.celrep.2015.07.023. Epub 2015 Aug 6.

18.

APP controls the formation of PI(3,5)P(2) vesicles through its binding of the PIKfyve complex.

Currinn H, Guscott B, Balklava Z, Rothnie A, Wassmer T.

Cell Mol Life Sci. 2016 Jan;73(2):393-408. doi: 10.1007/s00018-015-1993-0. Epub 2015 Jul 28.

19.

Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.

Yamashita S, Ando Y.

Transl Neurodegener. 2015 Jul 24;4:13. doi: 10.1186/s40035-015-0036-y. eCollection 2015.

20.

The Amyloid Precursor Protein Controls PIKfyve Function.

Balklava Z, Niehage C, Currinn H, Mellor L, Guscott B, Poulin G, Hoflack B, Wassmer T.

PLoS One. 2015 Jun 30;10(6):e0130485. doi: 10.1371/journal.pone.0130485. eCollection 2015.

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