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Nature
Resumen/Descripción – provisto por la editorial en inglés
Nature is a weekly international journal publishing the finest peer-reviewed research in all fields of science and technology on the basis of its originality, importance, interdisciplinary interest, timeliness, accessibility, elegance and surprising conclusions. Nature also provides rapid, authoritative, insightful and arresting news and interpretation of topical and coming trends affecting science, scientists and the wider public.Palabras clave – provistas por la editorial
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Disponibilidad
| Institución detectada | Período | Navegá | Descargá | Solicitá |
|---|---|---|---|---|
| No detectada | desde jul. 2012 / hasta dic. 2023 | Nature.com | ||
| No detectada | desde jul. 2006 / hasta ago. 2012 | Ovid |
Información
Tipo de recurso:
revistas
ISSN impreso
0028-0836
ISSN electrónico
1476-4687
Editor responsable
Springer Nature
País de edición
Reino Unido
Fecha de publicación
1869-
Tabla de contenidos
Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia
Julien Oury; Wei Zhang; Nadia Leloup; Akiko Koide; Alexis D. Corrado; Gayatri Ketavarapu
; Takamitsu Hattori; Shohei Koide; Steven J. Burden
<jats:title>Abstract</jats:title><jats:p>Congenital myasthenia (CM) is a devastating neuromuscular disease, and mutations in DOK7, an adaptor protein that is crucial for forming and maintaining neuromuscular synapses, are a major cause of CM<jats:sup>1,2</jats:sup>. The most common disease-causing mutation (<jats:italic>DOK7</jats:italic><jats:sup><jats:italic>1124_1127 dup</jats:italic></jats:sup>) truncates DOK7 and leads to the loss of two tyrosine residues that are phosphorylated and recruit CRK proteins, which are important for anchoring acetylcholine receptors at synapses. Here we describe a mouse model of this common form of CM (<jats:italic>Dok7</jats:italic><jats:sup><jats:italic>CM</jats:italic></jats:sup> mice) and a mouse with point mutations in the two tyrosine residues (<jats:italic>Dok7</jats:italic><jats:sup><jats:italic>2YF</jats:italic></jats:sup>). We show that <jats:italic>Dok7</jats:italic><jats:sup><jats:italic>CM</jats:italic></jats:sup> mice had severe deficits in neuromuscular synapse formation that caused neonatal lethality. Unexpectedly, these deficits were due to a severe deficiency in phosphorylation and activation of muscle-specific kinase (MUSK) rather than a deficiency in DOK7 tyrosine phosphorylation. We developed agonist antibodies against MUSK and show that these antibodies restored neuromuscular synapse formation and prevented neonatal lethality and late-onset disease in <jats:italic>Dok7</jats:italic><jats:sup><jats:italic>CM</jats:italic></jats:sup> mice. These findings identify an unexpected cause for disease and a potential therapy for both <jats:italic>DOK7</jats:italic> CM and other forms of CM caused by mutations in <jats:italic>AGRIN</jats:italic>, <jats:italic>LRP4</jats:italic> or <jats:italic>MUSK</jats:italic>, and illustrate the potential of targeted therapy to rescue congenital lethality.</jats:p>
Palabras clave: Multidisciplinary.
Pp. 404-408
Microbiota regulate social behaviour via stress response neurons in the brain
Wei-Li Wu; Mark D. Adame; Chia-Wei Liou; Jacob T. Barlow; Tzu-Ting Lai; Gil Sharon; Catherine E. Schretter; Brittany D. Needham; Madelyn I. Wang; Weiyi Tang; James Ousey; Yuan-Yuan Lin; Tzu-Hsuan Yao; Reem Abdel-Haq; Keith Beadle; Viviana Gradinaru; Rustem F. Ismagilov; Sarkis K. Mazmanian
Palabras clave: Multidisciplinary.
Pp. 409-414
A metabolomics pipeline for the mechanistic interrogation of the gut microbiome
Shuo Han; Will Van Treuren; Curt R. Fischer; Bryan D. Merrill; Brian C. DeFelice; Juan M. Sanchez; Steven K. Higginbottom; Leah Guthrie; Lalla A. Fall; Dylan Dodd; Michael A. Fischbach; Justin L. Sonnenburg
Palabras clave: Multidisciplinary.
Pp. 415-420
SARS-CoV-2 infection induces long-lived bone marrow plasma cells in humans
Jackson S. Turner; Wooseob Kim; Elizaveta Kalaidina; Charles W. Goss; Adriana M. Rauseo; Aaron J. Schmitz; Lena Hansen; Alem Haile; Michael K. Klebert; Iskra Pusic; Jane A. O’Halloran; Rachel M. Presti; Ali H. Ellebedy
Palabras clave: Multidisciplinary.
Pp. 421-425
Naturally enhanced neutralizing breadth against SARS-CoV-2 one year after infection
Zijun Wang; Frauke Muecksch; Dennis Schaefer-Babajew; Shlomo Finkin; Charlotte Viant; Christian Gaebler; Hans- Heinrich Hoffmann; Christopher O. Barnes; Melissa Cipolla; Victor Ramos; Thiago Y. Oliveira; Alice Cho; Fabian Schmidt; Justin Da Silva; Eva Bednarski; Lauren Aguado; Jim Yee; Mridushi Daga; Martina Turroja; Katrina G. Millard; Mila Jankovic; Anna Gazumyan; Zhen Zhao; Charles M. Rice; Paul D. Bieniasz; Marina Caskey; Theodora Hatziioannou; Michel C. Nussenzweig
<jats:title>Abstract</jats:title><jats:p>More than one year after its inception, the coronavirus disease 2019 (COVID-19) pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) remains difficult to control despite the availability of several working vaccines. Progress in controlling the pandemic is slowed by the emergence of variants that appear to be more transmissible and more resistant to antibodies<jats:sup>1,2</jats:sup>. Here we report on a cohort of 63 individuals who have recovered from COVID-19 assessed at 1.3, 6.2 and 12 months after SARS-CoV-2 infection, 41% of whom also received mRNA vaccines<jats:sup>3,4</jats:sup>. In the absence of vaccination, antibody reactivity to the receptor binding domain (RBD) of SARS-CoV-2, neutralizing activity and the number of RBD-specific memory B cells remain relatively stable between 6 and 12 months after infection. Vaccination increases all components of the humoral response and, as expected, results in serum neutralizing activities against variants of concern similar to or greater than the neutralizing activity against the original Wuhan Hu-1 strain achieved by vaccination of naive individuals<jats:sup>2,5–8</jats:sup>. The mechanism underlying these broad-based responses involves ongoing antibody somatic mutation, memory B cell clonal turnover and development of monoclonal antibodies that are exceptionally resistant to SARS-CoV-2 RBD mutations, including those found in the variants of concern<jats:sup>4,9</jats:sup>. In addition, B cell clones expressing broad and potent antibodies are selectively retained in the repertoire over time and expand markedly after vaccination. The data suggest that immunity in convalescent individuals will be very long lasting and that convalescent individuals who receive available mRNA vaccines will produce antibodies and memory B cells that should be protective against circulating SARS-CoV-2 variants.</jats:p>
Palabras clave: Multidisciplinary.
Pp. 426-431
ctDNA guiding adjuvant immunotherapy in urothelial carcinoma
Thomas Powles; Zoe June Assaf; Nicole Davarpanah; Romain Banchereau; Bernadett E. Szabados; Kobe C. Yuen; Petros Grivas; Maha Hussain; Stephane Oudard; Jürgen E. Gschwend; Peter Albers; Daniel Castellano; Hiroyuki Nishiyama; Siamak Daneshmand; Shruti Sharma; Bernhard G. Zimmermann; Himanshu Sethi; Alexey Aleshin; Maurizio Perdicchio; Jingbin Zhang; David S. Shames; Viraj Degaonkar; Xiaodong Shen; Corey Carter; Carlos Bais; Joaquim Bellmunt; Sanjeev Mariathasan
Palabras clave: Multidisciplinary.
Pp. 432-437
A transcriptional switch governs fibroblast activation in heart disease
Michael Alexanian; Pawel F. Przytycki; Rudi Micheletti; Arun Padmanabhan; Lin Ye; Joshua G. Travers; Barbara Gonzalez-Teran; Ana Catarina Silva; Qiming Duan; Sanjeev S. Ranade; Franco Felix; Ricardo Linares-Saldana; Li Li; Clara Youngna Lee; Nandhini Sadagopan; Angelo Pelonero; Yu Huang; Gaia Andreoletti; Rajan Jain; Timothy A. McKinsey; Michael G. Rosenfeld; Casey A. Gifford; Katherine S. Pollard; Saptarsi M. Haldar; Deepak Srivastava
Palabras clave: Multidisciplinary.
Pp. 438-443
Shape of promoter antisense RNAs regulates ligand-induced transcription activation
Fan Yang; Bogdan Tanasa; Rudi Micheletti; Kenneth A. Ohgi; Aneel K. Aggarwal; Michael G. Rosenfeld
Palabras clave: Multidisciplinary.
Pp. 444-449
G-protein activation by a metabotropic glutamate receptor
Alpay B. Seven; Ximena Barros-Álvarez; Marine de Lapeyrière; Makaía M. Papasergi-Scott; Michael J. Robertson; Chensong Zhang; Robert M. Nwokonko; Yang Gao; Justin G. Meyerowitz; Jean-Philippe Rocher; Dominik Schelshorn; Brian K. Kobilka; Jesper M. Mathiesen; Georgios Skiniotis
Palabras clave: Multidisciplinary.
Pp. 450-454
Asymmetric activation of the calcium-sensing receptor homodimer
Yang Gao; Michael J. Robertson; Sabrina N. Rahman; Alpay B. Seven; Chensong Zhang; Justin G. Meyerowitz; Ouliana Panova; Fadil M. Hannan; Rajesh V. Thakker; Hans Bräuner-Osborne; Jesper M. Mathiesen; Georgios Skiniotis
Palabras clave: Multidisciplinary.
Pp. 455-459