Search | VHL CLAP/WR-PAHO/WHO

1.

Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.

Rodríguez Cruz, Pedro M; Cossins, Judith; Cheung, Jonathan; Maxwell, Susan; Jayawant, Sandeep; Herbst, Ruth; Waithe, Dominic; Kornev, Alexandr P; Palace, Jacqueline; Beeson, David.

Hum Mutat ; 41(3): 619-631, 2020 03.

Article in English | MEDLINE | ID: mdl-31765060

2.

Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice.

Kim, Jeong-Ki; Caine, Charlotte; Awano, Tomoyuki; Herbst, Ruth; Monani, Umrao R.

Hum Mol Genet ; 26(13): 2377-2385, 2017 07 01.

Article in English | MEDLINE | ID: mdl-28379354

3.

CLP1 links tRNA metabolism to progressive motor-neuron loss.

Hanada, Toshikatsu; Weitzer, Stefan; Mair, Barbara; Bernreuther, Christian; Wainger, Brian J; Ichida, Justin; Hanada, Reiko; Orthofer, Michael; Cronin, Shane J; Komnenovic, Vukoslav; Minis, Adi; Sato, Fuminori; Mimata, Hiromitsu; Yoshimura, Akihiko; Tamir, Ido; Rainer, Johannes; Kofler, Reinhard; Yaron, Avraham; Eggan, Kevin C; Woolf, Clifford J; Glatzel, Markus; Herbst, Ruth; Martinez, Javier; Penninger, Josef M.

Nature ; 495(7442): 474-80, 2013 Mar 28.

Article in English | MEDLINE | ID: mdl-23474986

4.

Reduced muscle strength in ether lipid-deficient mice is accompanied by altered development and function of the neuromuscular junction.

Dorninger, Fabian; Herbst, Ruth; Kravic, Bojana; Camurdanoglu, Bahar Z; Macinkovic, Igor; Zeitler, Gerhard; Forss-Petter, Sonja; Strack, Siegfried; Khan, Muzamil Majid; Waterham, Hans R; Rudolf, Rüdiger; Hashemolhosseini, Said; Berger, Johannes.

J Neurochem ; 143(5): 569-583, 2017 12.

Article in English | MEDLINE | ID: mdl-28555889

5.

Global analysis of muscle-specific kinase signaling by quantitative phosphoproteomics.

Dürnberger, Gerhard; Camurdanoglu, Bahar Z; Tomschik, Matthias; Schutzbier, Michael; Roitinger, Elisabeth; Hudecz, Otto; Mechtler, Karl; Herbst, Ruth.

Mol Cell Proteomics ; 13(8): 1993-2003, 2014 Aug.

Article in English | MEDLINE | ID: mdl-24899341

6.

Building, Breaking, and Repairing Neuromuscular Synapses.

Herbst, Ruth; Huijbers, Maartje G; Oury, Julien; Burden, Steven J.

Cold Spring Harb Perspect Biol ; 16(5)2024 05 02.

Article in English | MEDLINE | ID: mdl-38697654

7.

The formation of complex acetylcholine receptor clusters requires MuSK kinase activity and structural information from the MuSK extracellular domain.

Mazhar, Sania; Herbst, Ruth.

Mol Cell Neurosci ; 49(4): 475-86, 2012 Apr.

Article in English | MEDLINE | ID: mdl-22210232

8.

From phosphorylation to phenotype - Recent key findings on kinase regulation, downstream signaling and disease surrounding the receptor tyrosine kinase MuSK.

Prömer, Jakob; Barresi, Cinzia; Herbst, Ruth.

Cell Signal ; 104: 110584, 2023 04.

Article in English | MEDLINE | ID: mdl-36608736

9.

The guanine nucleotide exchange factor Rin-like controls Tfh cell differentiation via CD28 signaling.

Sandner, Lisa; Alteneder, Marlis; Rica, Ramona; Woller, Barbara; Sala, Eleonora; Frey, Tobias; Tosevska, Anela; Zhu, Ci; Madern, Moritz; Khan, Matarr; Hoffmann, Pol; Schebesta, Alexandra; Taniuchi, Ichiro; Bonelli, Michael; Schmetterer, Klaus; Iannacone, Matteo; Kuka, Mirela; Ellmeier, Wilfried; Sakaguchi, Shinya; Herbst, Ruth; Boucheron, Nicole.

J Exp Med ; 220(11)2023 11 06.

Article in English | MEDLINE | ID: mdl-37703004

10.

Rin-like, a novel regulator of endocytosis, acts as guanine nucleotide exchange factor for Rab5a and Rab22.

Woller, Barbara; Luiskandl, Susan; Popovic, Milica; Prieler, Barbara E M; Ikonge, Gloria; Mutzl, Michaela; Rehmann, Holger; Herbst, Ruth.

Biochim Biophys Acta ; 1813(6): 1198-210, 2011 Jun.

Article in English | MEDLINE | ID: mdl-21419809

11.

Rescuing Z+ agrin splicing in Nova null mice restores synapse formation and unmasks a physiologic defect in motor neuron firing.

Ruggiu, Matteo; Herbst, Ruth; Kim, Natalie; Jevsek, Marko; Fak, John J; Mann, Mary Anne; Fischbach, Gerald; Burden, Steven J; Darnell, Robert B.

Proc Natl Acad Sci U S A ; 106(9): 3513-8, 2009 Mar 03.

Article in English | MEDLINE | ID: mdl-19221030

12.

Internalization of Muscle-Specific Kinase Is Increased by Agrin and Independent of Kinase-Activity, Lrp4 and Dynamin.

Gemza, Anna; Barresi, Cinzia; Proemer, Jakob; Hatami, Jasmin; Lazaridis, Margarita; Herbst, Ruth.

Front Mol Neurosci ; 15: 780659, 2022.

Article in English | MEDLINE | ID: mdl-35370548

13.

MuSk function during health and disease.

Herbst, Ruth.

Neurosci Lett ; 716: 134676, 2020 01 18.

Article in English | MEDLINE | ID: mdl-31811897

14.

Myasthenia Gravis: Pathogenic Effects of Autoantibodies on Neuromuscular Architecture.

Koneczny, Inga; Herbst, Ruth.

Cells ; 8(7)2019 07 02.

Article in English | MEDLINE | ID: mdl-31269763

15.

Fluorescence colocalization microscopy analysis can be improved by combining object-recognition with pixel-intensity-correlation.

Moser, Bernhard; Hochreiter, Bernhard; Herbst, Ruth; Schmid, Johannes A.

Biotechnol J ; 12(1)2017 Jan.

Article in English | MEDLINE | ID: mdl-27420480

16.

Editorial: Molecular Mechanisms Underlying Assembly and Maintenance of the Neuromuscular Junction.

Herbst, Ruth; Koneczny, Inga; Lochmüller, Hanns; Strochlic, Laure.

Front Mol Neurosci ; 14: 797832, 2021.

Article in English | MEDLINE | ID: mdl-34880729

17.

Neuromuscular synapse integrity requires linkage of acetylcholine receptors to postsynaptic intermediate filament networks via rapsyn-plectin 1f complexes.

Mihailovska, Eva; Raith, Marianne; Valencia, Rocio G; Fischer, Irmgard; Al Banchaabouchi, Mumna; Herbst, Ruth; Wiche, Gerhard.

Mol Biol Cell ; 25(25): 4130-49, 2014 Dec 15.

Article in English | MEDLINE | ID: mdl-25318670

18.

Endosomal trafficking of the receptor tyrosine kinase MuSK proceeds via clathrin-dependent pathways, Arf6 and actin.

Luiskandl, Susan; Woller, Barbara; Schlauf, Marlies; Schmid, Johannes A; Herbst, Ruth.

FEBS J ; 280(14): 3281-97, 2013 Jul.

Article in English | MEDLINE | ID: mdl-23621612

19.

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

Ben Ammar, Asma; Soltanzadeh, Payam; Bauché, Stéphanie; Richard, Pascale; Goillot, Evelyne; Herbst, Ruth; Gaudon, Karen; Huzé, Caroline; Schaeffer, Laurent; Yamanashi, Yuji; Higuchi, Osamu; Taly, Antoine; Koenig, Jeanine; Leroy, Jean-Paul; Hentati, Fayçal; Najmabadi, Hossein; Kahrizi, Kimia; Ilkhani, Manouchehr; Fardeau, Michel; Eymard, Bruno; Hantaï, Daniel.

PLoS One ; 8(1): e53826, 2013.

Article in English | MEDLINE | ID: mdl-23326516

20.

Aberrant development of neuromuscular junctions in glycosylation-defective Large(myd) mice.

Herbst, Ruth; Iskratsch, Thomas; Unger, Ewald; Bittner, Reginald E.

Neuromuscul Disord ; 19(5): 366-78, 2009 May.

Article in English | MEDLINE | ID: mdl-19346129

VHL CLAP/WR-PAHO/WHO

Latin-American Center for Perinatology, Woman and Reproductive Health

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