Literature DB >> 21115472

Mutation in FAM134B causing severe hereditary sensory neuropathy.

Sinéad M Murphy, Gabrielle L Davidson, Sebastian Brandner, Henry Houlden, Mary M Reilly.   

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Year:  2010        PMID： 21115472      PMCID： PMC3721196          DOI： 10.1136/jnnp.2010.228965

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  5 in total

1.  SPTLC1 is mutated in hereditary sensory neuropathy, type 1.

Authors:  K Bejaoui; C Wu; M D Scheffler; G Haan; P Ashby; L Wu; P de Jong; R H Brown
Journal:  Nat Genet       Date:  2001-03       Impact factor: 38.330

2.  Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.

Authors:  Ingo Kurth; Torsten Pamminger; J Christopher Hennings; Désirée Soehendra; Antje K Huebner; Annelies Rotthier; Jonathan Baets; Jan Senderek; Haluk Topaloglu; Sandra A Farrell; Gudrun Nürnberg; Peter Nürnberg; Peter De Jonghe; Andreas Gal; Christoph Kaether; Vincent Timmerman; Christian A Hübner
Journal:  Nat Genet       Date:  2009-10-18       Impact factor: 38.330

3.  A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.

Authors:  Elisabet Einarsdottir; Anna Carlsson; Jan Minde; Göran Toolanen; Olle Svensson; Göran Solders; Gösta Holmgren; Dan Holmberg; Monica Holmberg
Journal:  Hum Mol Genet       Date:  2004-02-19       Impact factor: 6.150

4.  Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.

Authors:  Ronald G Lafreniere; Marcia L E MacDonald; Marie-Pierre Dube; Julie MacFarlane; Mary O'Driscoll; Bernard Brais; Sebastien Meilleur; Ryan R Brinkman; Owen Dadivas; Terry Pape; Christele Platon; Chris Radomski; Jenni Risler; Jay Thompson; Ana-Maria Guerra-Escobio; Gudarz Davar; Xandra O Breakefield; Simon N Pimstone; Roger Green; William Pryse-Phillips; Y Paul Goldberg; H Banfield Younghusband; Michael R Hayden; Robin Sherrington; Guy A Rouleau; Mark E Samuels
Journal:  Am J Hum Genet       Date:  2004-04-01       Impact factor: 11.025

Review 5.  Hereditary sensory neuropathies.

Authors:  Henry Houlden; Julian Blake; Mary M Reilly
Journal:  Curr Opin Neurol       Date:  2004-10       Impact factor: 5.710
  5 in total
  21 in total

Review 1.  Mechanisms of disease in hereditary sensory and autonomic neuropathies.

Authors:  Annelies Rotthier; Jonathan Baets; Vincent Timmerman; Katrien Janssens
Journal:  Nat Rev Neurol       Date:  2012-01-24       Impact factor: 42.937

2.  Novel FAM134B mutations and their clinicopathological significance in colorectal cancer.

Authors:  Farhadul Islam; Vinod Gopalan; Riajul Wahab; Katherine Ting-Wei Lee; Md Hakimul Haque; Afraa Mamoori; Cu-Tai Lu; Robert A Smith; Alfred K-Y Lam
Journal:  Hum Genet       Date:  2017-01-31       Impact factor: 4.132

Review 3.  ER-phagy and human diseases.

Authors:  Christian A Hübner; Ivan Dikic
Journal:  Cell Death Differ       Date:  2019-10-28       Impact factor: 15.828

4.  FAM134B oligomerization drives endoplasmic reticulum membrane scission for ER-phagy.

Authors:  Xiao Jiang; Xinyi Wang; Xianming Ding; Mengjie Du; Boran Li; Xialian Weng; Jingzi Zhang; Lin Li; Rui Tian; Qi Zhu; She Chen; Liang Wang; Wei Liu; Lei Fang; Dante Neculai; Qiming Sun
Journal:  EMBO J       Date:  2020-01-13       Impact factor: 11.598

Review 5.  Autophagy in major human diseases.

Authors:  Daniel J Klionsky; Giulia Petroni; Ravi K Amaravadi; Eric H Baehrecke; Andrea Ballabio; Patricia Boya; José Manuel Bravo-San Pedro; Ken Cadwell; Francesco Cecconi; Augustine M K Choi; Mary E Choi; Charleen T Chu; Patrice Codogno; Maria Isabel Colombo; Ana Maria Cuervo; Vojo Deretic; Ivan Dikic; Zvulun Elazar; Eeva-Liisa Eskelinen; Gian Maria Fimia; David A Gewirtz; Douglas R Green; Malene Hansen; Marja Jäättelä; Terje Johansen; Gábor Juhász; Vassiliki Karantza; Claudine Kraft; Guido Kroemer; Nicholas T Ktistakis; Sharad Kumar; Carlos Lopez-Otin; Kay F Macleod; Frank Madeo; Jennifer Martinez; Alicia Meléndez; Noboru Mizushima; Christian Münz; Josef M Penninger; Rushika M Perera; Mauro Piacentini; Fulvio Reggiori; David C Rubinsztein; Kevin M Ryan; Junichi Sadoshima; Laura Santambrogio; Luca Scorrano; Hans-Uwe Simon; Anna Katharina Simon; Anne Simonsen; Alexandra Stolz; Nektarios Tavernarakis; Sharon A Tooze; Tamotsu Yoshimori; Junying Yuan; Zhenyu Yue; Qing Zhong; Lorenzo Galluzzi; Federico Pietrocola
Journal:  EMBO J       Date:  2021-08-30       Impact factor: 14.012

Review 6.  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

7.  Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.

Authors:  G L Davidson; S M Murphy; J M Polke; M Laura; M A M Salih; F Muntoni; J Blake; S Brandner; N Davies; R Horvath; S Price; M Donaghy; M Roberts; N Foulds; G Ramdharry; D Soler; M P Lunn; H Manji; M B Davis; H Houlden; M M Reilly
Journal:  J Neurol       Date:  2012-08       Impact factor: 4.849

8.  RETREG1/FAM134B mediated autophagosomal degradation of AMFR/GP78 and OPA1 -a dual organellar turnover mechanism.

Authors:  Debdatto Mookherjee; Subhrangshu Das; Rukmini Mukherjee; Manindra Bera; Swadhin Chandra Jana; Saikat Chakrabarti; Oishee Chakrabarti
Journal:  Autophagy       Date:  2020-07-01       Impact factor: 16.016

9.  Late-onset hereditary sensory and autonomic neuropathy type 2B caused by novel compound heterozygous mutations in FAM134B presenting as chronic recurrent ulcers on the soles.

Authors:  Ze-Yu Luo; Hui-Jun Wang; Yu-Kun Zhao; Juan-Hua Liu; Ying-Ming Chen; Zhi-Miao Lin; Di-Qing Luo
Journal:  Indian J Dermatol Venereol Leprol       Date:  2021 May-Jun       Impact factor: 2.545

Review 10.  The Regulatory Role of Reticulons in Neurodegeneration: Insights Underpinning Therapeutic Potential for Neurodegenerative Diseases.

Authors:  Lilesh Kumar Pradhan; Saroj Kumar Das
Journal:  Cell Mol Neurobiol       Date:  2020-06-05       Impact factor: 5.046
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