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1703 Publications visible to you, out of a total of 1703
Comparative mapping of on-targets and off-targets for the discovery of anti-trypanosomatid folate pathway inhibitors

Abstract

Not specified

Authors: Joanna Panecka-Hofman, Ina Pöhner, Francesca Spyrakis, Talia Zeppelin, Flavio Di Pisa, Lucia Dello Iacono, Alessio Bonucci, Antonio Quotadamo, Alberto Venturelli, Stefano Mangani, Maria Paola Costi, Rebecca C. Wade

Date Published: 1st Dec 2017

Publication Type: Journal

A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity

Abstract (Expand)

ARL13B encodes for the ADP-ribosylation factor-like 13B GTPase, which is required for normal cilia structure and Sonic hedgehog (Shh) signaling. Disruptions in cilia structure or function lead to a … class of human disorders called ciliopathies. Joubert syndrome is characterized by a wide spectrum of symptoms, including a variable degree of intellectual disability, ataxia, and ocular abnormalities. Here we report a novel homozygous missense variant c.[223G>A] (p.(Gly75Arg) in the ARL13B gene, which was identified by whole-exome sequencing of a trio from a consanguineous family with multiple-affected individuals suffering from intellectual disability, ataxia, ocular defects, and epilepsy. The same variant was also identified in a second family. We saw a striking difference in the severity of ataxia between affected male and female individuals in both families. Both ARL13B and ARL13B-c.[223G>A] (p.(Gly75Arg) expression rescued the cilia length and Shh defects displayed by Arl13b hennin (null) cells, indicating that the variant did not disrupt either ARL13B function. In contrast, ARL13B-c.[223G>A] (p.(Gly75Arg) displayed a marked loss of ARL3 guanine nucleotide-exchange factor activity, with retention of its GTPase activities, highlighting the correlation between its loss of function as an ARL3 guanine nucleotide-exchange factor and Joubert syndrome.

Authors: Rafiullah Rafiullah, Alyssa B. Long, Anna A. Ivanova, Hazrat Ali, Simone Berkel, Ghulam Mustafa, Nagarajan Paramasivam, Matthias Schlesner, Stefan Wiemann, Rebecca C. Wade, Eugen Bolthauser, Martin Blum, Richard A. Kahn, Tamara Caspary, Gudrun A. Rappold

Date Published: 1st Dec 2017

Publication Type: Journal

Early light curves for Type Ia supernova explosion models

Abstract

Not specified

Authors: U. M. Noebauer, M. Kromer, S. Taubenberger, P. Baklanov, S. Blinnikov, E. Sorokina, W. Hillebrandt

Date Published: 1st Dec 2017

Publication Type: Journal

Neutron-star Radius Constraints from GW170817 and Future Detections

Abstract

Not specified

Authors: Andreas Bauswein, Oliver Just, Hans-Thomas Janka, Nikolaos Stergioulas

Date Published: 1st Dec 2017

Publication Type: Journal

Inferring the post-merger gravitational wave emission from binary neutron star coalescences

Abstract

Not specified

Authors: Katerina Chatziioannou, James Alexander Clark, Andreas Bauswein, Margaret Millhouse, Tyson B. Littenberg, Neil Cornish

Date Published: 1st Dec 2017

Publication Type: Journal

Testing stellar evolution models with detached eclipsing binaries

Abstract

Not specified

Authors: J. Higl, A. Weiss

Date Published: 1st Dec 2017

Publication Type: Journal

A brief history of COMBINE

Abstract

Not specified

Authors: Chris J. Myers, Gary Bader, Padraig Gleeson, Martin Golebiewski, Michael Hucka, Nicolas Le Novere, David P. Nickerson, Falk Schreiber, Dagmar Waltemath

Date Published: 1st Dec 2017

Publication Type: Journal

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