Kasper D - Search Results

1

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

Betz RC, Schoser BG, Kasper D, Ricker K, Ramírez A, Stein V, Torbergsen T, Lee YA, Nöthen MM, Wienker TF, Malin JP, Propping P, Reis A, Mortier W, Jentsch TJ, Vorgerd M, Kubisch C. Betz RC, et al. Among authors: kasper d. Nat Genet. 2001 Jul;28(3):218-9. doi: 10.1038/90050. Nat Genet. 2001. PMID: 11431690

2

Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.

Kornak U, Kasper D, Bösl MR, Kaiser E, Schweizer M, Schulz A, Friedrich W, Delling G, Jentsch TJ. Kornak U, et al. Among authors: kasper d. Cell. 2001 Jan 26;104(2):205-15. doi: 10.1016/s0092-8674(01)00206-9. Cell. 2001. PMID: 11207362 Free article.

3

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.

Kasper D, Planells-Cases R, Fuhrmann JC, Scheel O, Zeitz O, Ruether K, Schmitt A, Poët M, Steinfeld R, Schweizer M, Kornak U, Jentsch TJ. Kasper D, et al. EMBO J. 2005 Mar 9;24(5):1079-91. doi: 10.1038/sj.emboj.7600576. Epub 2005 Feb 10. EMBO J. 2005. PMID: 15706348 Free PMC article.

4

Neither type of mannose 6-phosphate receptor is sufficient for targeting of lysosomal enzymes along intracellular routes.

Kasper D, Dittmer F, von Figura K, Pohlmann R. Kasper D, et al. J Cell Biol. 1996 Aug;134(3):615-23. doi: 10.1083/jcb.134.3.615. J Cell Biol. 1996. PMID: 8707842 Free PMC article.

5

The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress.

Greeve I, Hermans-Borgmeyer I, Brellinger C, Kasper D, Gomez-Isla T, Behl C, Levkau B, Nitsch RM. Greeve I, et al. Among authors: kasper d. J Neurosci. 2000 Oct 1;20(19):7345-52. doi: 10.1523/JNEUROSCI.20-19-07345.2000. J Neurosci. 2000. PMID: 11007892 Free PMC article.

6

The sortilin cytoplasmic tail conveys Golgi-endosome transport and binds the VHS domain of the GGA2 sorting protein.

Nielsen MS, Madsen P, Christensen EI, Nykjaer A, Gliemann J, Kasper D, Pohlmann R, Petersen CM. Nielsen MS, et al. Among authors: kasper d. EMBO J. 2001 May 1;20(9):2180-90. doi: 10.1093/emboj/20.9.2180. EMBO J. 2001. PMID: 11331584 Free PMC article.

7

Targeting RGMb interactions: Discovery and preclinical characterization of potent anti-RGMb antibodies blocking multiple ligand bindings.

Meira M, Frey A, Chekkat N, Rybczynska M, Sellam Z, Park JS, Gazzaniga FS, Parmentier A, Le Gall M, Freeman GJ, Kasper DL, Sharpe AH, Rambeaux E, Shamshiev A. Meira M, et al. Among authors: kasper dl. MAbs. 2024 Jan-Dec;16(1):2432403. doi: 10.1080/19420862.2024.2432403. Epub 2024 Nov 26. MAbs. 2024. PMID: 39588913 Free PMC article.

8

The microbiome diversifies N-acyl lipid pools - including short-chain fatty acid-derived compounds.

Mannochio-Russo H, Charron-Lamoureux V, van Faassen M, Lamichhane S, Nunes WDG, Deleray V, Patan A, Vittali K, Rajkumar P, El Abiead Y, Zhao HN, Gomes PWP, Mohanty I, Lee C, Sund A, Sharma M, Liu Y, Pattynama D, Walker GT, Norton GJ, Khatib L, Andalibi MS, Wang CX, Ellis RJ, Moore DJ, Iudicello JE, Franklin D Jr, Letendre S, Chin L, Walker C, Renwick S, Zemlin J, Meehan MJ, Song X, Kasper D, Burcham Z, Kim JJ, Kadakia S, Raffatellu M, Bode L, Zengler K, Wang M, Siegel D, Knight R, Dorrestein PC. Mannochio-Russo H, et al. Among authors: kasper d. bioRxiv [Preprint]. 2024 Nov 2:2024.10.31.621412. doi: 10.1101/2024.10.31.621412. bioRxiv. 2024. PMID: 39554097 Free PMC article. Preprint.

9

Temporal variation of mercury levels in fish, soil, and sediments in an Amazon reservoir: insights from 35 years of river impoundment in Pará State, Brazil.

de Castro Paiva T, Pestana IA, de Oliveira BCV, Malm O, de Rezende CE, Kasper D. de Castro Paiva T, et al. Among authors: kasper d. Environ Monit Assess. 2024 Oct 22;196(11):1089. doi: 10.1007/s10661-024-13199-5. Environ Monit Assess. 2024. PMID: 39436467

10

Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy.

Laugwitz L, Mechtler TP, Janzen N, Oliva P, Kasper AR, Teunissen CE, Bürger F, Janda J, Döring M, Weitz M, Lang P, Martin P, Beck-Woedl S, Chanson C, Essing MM, Shenker A, Haack TB, Schulte JH, Rosewich H, Streubel B, Kasper DC, Groeschel S. Laugwitz L, et al. Among authors: kasper dc. N Engl J Med. 2024 Oct 3;391(13):1256-1258. doi: 10.1056/NEJMc2407165. Epub 2024 Sep 18. N Engl J Med. 2024. PMID: 39292923 No abstract available.

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