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RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.
PLoS Genet. 2018 May 7;14(5):e1007370. doi: 10.1371/journal.pgen.1007370. eCollection 2018 May.
PLoS Genet. 2018.
PMID: 29734338
Free PMC article.
Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.
Gripp KW, Kolbe V, Brandenstein LI, Rosenberger G.
Gripp KW, et al. Among authors: brandenstein li.
Clin Genet. 2017 Sep;92(3):332-337. doi: 10.1111/cge.12980. Epub 2017 Mar 30.
Clin Genet. 2017.
PMID: 28139825
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Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes.
Nauth T, Bazgir F, Voß H, Brandenstein LI, Mosaddeghzadeh N, Rickassel V, Deden S, Gorzelanny C, Schlüter H, Ahmadian MR, Rosenberger G.
Nauth T, et al. Among authors: brandenstein li.
Hum Mol Genet. 2023 Jan 6;32(2):304-318. doi: 10.1093/hmg/ddac188.
Hum Mol Genet. 2023.
PMID: 35981076
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Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7.
Brandenstein L, Schweizer M, Sedlacik J, Fiehler J, Storch S.
Brandenstein L, et al.
Hum Mol Genet. 2016 Feb 15;25(4):777-91. doi: 10.1093/hmg/ddv615. Epub 2015 Dec 17.
Hum Mol Genet. 2016.
PMID: 26681805
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Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7.
Jankowiak W, Brandenstein L, Dulz S, Hagel C, Storch S, Bartsch U.
Jankowiak W, et al.
Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):4989-4998. doi: 10.1167/iovs.16-20158.
Invest Ophthalmol Vis Sci. 2016.
PMID: 27654426
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Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease.
Damme M, Brandenstein L, Fehr S, Jankowiak W, Bartsch U, Schweizer M, Hermans-Borgmeyer I, Storch S.
Damme M, et al.
Neurobiol Dis. 2014 May;65:12-24. doi: 10.1016/j.nbd.2014.01.003. Epub 2014 Jan 11.
Neurobiol Dis. 2014.
PMID: 24423645
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