Literature DB >> 24736309

A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1.

Dirk Fischer1, Maria Schabhüttl2, Thomas Wieland3, Reinhard Windhager2, Tim M Strom4, Michaela Auer-Grumbach5.   

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Year:  2014        PMID： 24736309     DOI： 10.1093/brain/awu091

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  18 in total

1.  A hereditary spastic paraplegia-associated atlastin variant exhibits defective allosteric coupling in the catalytic core.

Authors:  John P O'Donnell; Laura J Byrnes; Richard B Cooley; Holger Sondermann
Journal:  J Biol Chem       Date:  2017-11-27       Impact factor: 5.157

Review 2.  Quality Control in Neurons: Mitophagy and Other Selective Autophagy Mechanisms.

Authors:  Chantell S Evans; Erika L F Holzbaur
Journal:  J Mol Biol       Date:  2019-07-08       Impact factor: 5.469

3.  Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.

Authors:  Peng-Peng Zhu; Kyle R Denton; Tyler Mark Pierson; Xue-Jun Li; Craig Blackstone
Journal:  Hum Mol Genet       Date:  2014-06-06       Impact factor: 6.150

4.  Timing and Reset Mechanism of GTP Hydrolysis-Driven Conformational Changes of Atlastin.

Authors:  John P O'Donnell; Richard B Cooley; Carolyn M Kelly; Kurt Miller; Olaf S Andersen; Radda Rusinova; Holger Sondermann
Journal:  Structure       Date:  2017-06-09       Impact factor: 5.006

Review 5.  Genetic pain loss disorders.

Authors:  Annette Lischka; Petra Lassuthova; Arman Çakar; Christopher J Record; Jonas Van Lent; Jonathan Baets; Maike F Dohrn; Jan Senderek; Angelika Lampert; David L Bennett; John N Wood; Vincent Timmerman; Thorsten Hornemann; Michaela Auer-Grumbach; Yesim Parman; Christian A Hübner; Miriam Elbracht; Katja Eggermann; C Geoffrey Woods; James J Cox; Mary M Reilly; Ingo Kurth
Journal:  Nat Rev Dis Primers       Date:  2022-06-16       Impact factor: 65.038

Review 6.  ER-phagy: mechanisms, regulation, and diseases connected to the lysosomal clearance of the endoplasmic reticulum.

Authors:  Fulvio Reggiori; Maurizio Molinari
Journal:  Physiol Rev       Date:  2022-02-21       Impact factor: 46.500

Review 7.  [Sensory and autonomic neuropathies and pain-related channelopathies].

Authors:  I Kurth
Journal:  Schmerz       Date:  2015-08       Impact factor: 1.107

8.  Identification of dietary alanine toxicity and trafficking dysfunction in a Drosophila model of hereditary sensory and autonomic neuropathy type 1.

Authors:  Matthew C W Oswald; Ryan J H West; Emyr Lloyd-Evans; Sean T Sweeney
Journal:  Hum Mol Genet       Date:  2015-09-22       Impact factor: 6.150

9.  Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.

Authors:  Vivian Pedigone Cintra; Maike F Dohrn; Pedro José Tomaselli; Fernanda Barbosa Figueiredo; Sandra Elisabete Marques; Sarah Teixeira Camargos; Luiz Sergio Mageste Barbosa; Adriana P Rebelo; Lisa Abreu; Matt Danzi; Wilson Marques; Stephan Züchner
Journal:  J Neurol Sci       Date:  2021-05-18       Impact factor: 4.553

10.  Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution.

Authors:  Michiel Krols; Bob Asselbergh; Riet De Rycke; Vicky De Winter; Alexandre Seyer; Franz-Josef Müller; Ingo Kurth; Geert Bultynck; Vincent Timmerman; Sophie Janssens
Journal:  Hum Mol Genet       Date:  2019-02-15       Impact factor: 6.150
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