Literature DB >> 24790214

Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations.

Matthis Synofzik1, Christoph Kernstock2, Tobias B Haack3, Ludger Schöls1.   

Abstract

Entities:  

Keywords:  CEREBELLAR ATAXIA; CEREBELLAR DEGENERATION; MOVEMENT DISORDERS; NEUROGENETICS; NEUROOPHTHALMOLOGY

Mesh：

Substances：

Year:  2014        PMID： 24790214     DOI： 10.1136/jnnp-2014-307793

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


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  11 in total

1.  Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.

Authors:  A Deik; B Johannes; J C Rucker; E Sánchez; S E Brodie; E Deegan; K Landy; Y Kajiwara; S Scelsa; R Saunders-Pullman; C Paisán-Ruiz
Journal:  J Neurol       Date:  2014-09-30       Impact factor: 4.849

2.  Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome.

Authors:  Kishin Koh; Fumikazu Kobayashi; Michiaki Miwa; Kazumasa Shindo; Eiji Isozaki; Hiroyuki Ishiura; Shoji Tsuji; Yoshihisa Takiyama
Journal:  J Hum Genet       Date:  2015-01-29       Impact factor: 3.172

3.  A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ.

Authors:  Anju Shukla; Russell P Saneto; Malavika Hebbar; Ghayda Mirzaa; Katta M Girisha
Journal:  Am J Med Genet A       Date:  2018-05       Impact factor: 2.802

4.  NTE/PNPLA6 is expressed in mature Schwann cells and is required for glial ensheathment of Remak fibers.

Authors:  Janis McFerrin; Bruce L Patton; Elizabeth R Sunderhaus; Doris Kretzschmar
Journal:  Glia       Date:  2017-02-16       Impact factor: 7.452

5.  Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse.

Authors:  Carol J Saunders; Sung Ho Moon; Xinping Liu; Isabelle Thiffault; Keith Coffman; Jean-Baptiste LePichon; Eugenio Taboada; Laurie D Smith; Emily G Farrow; Neil Miller; Margaret Gibson; Melanie Patterson; Stephen F Kingsmore; Richard W Gross
Journal:  Hum Mutat       Date:  2015-03       Impact factor: 4.878

Review 6.  Movement Disorders Associated with Hypogonadism.

Authors:  Paulina Gonzalez-Latapi; Mario Sousa; Anthony E Lang
Journal:  Mov Disord Clin Pract       Date:  2021-07-29

7.  Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.

Authors:  Hélio Afonso Ghizoni Teive; Carlos Henrique F Camargo; Mario Teruo Sato; Naoye Shiokawa; Cesar L Boguszewski; Salmo Raskin; Cassandra Buck; Stephanie B Seminara; Renato Puppi Munhoz
Journal:  Cerebellum       Date:  2018-06       Impact factor: 3.847

8.  Neuropathy target esterase (NTE/PNPLA6) and organophosphorus compound-induced delayed neurotoxicity (OPIDN).

Authors:  Rudy J Richardson; John K Fink; Paul Glynn; Robert B Hufnagel; Galina F Makhaeva; Sanjeeva J Wijeyesakere
Journal:  Adv Neurotoxicol       Date:  2020-03-03

9.  Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

Authors:  Robert B Hufnagel; Gavin Arno; Nichole D Hein; Joshua Hersheson; Megana Prasad; Yvonne Anderson; Laura A Krueger; Louise C Gregory; Corinne Stoetzel; Thomas J Jaworek; Sarah Hull; Abi Li; Vincent Plagnol; Christi M Willen; Thomas M Morgan; Cynthia A Prows; Rashmi S Hegde; Saima Riazuddin; Gregory A Grabowski; Rudy J Richardson; Klaus Dieterich; Taosheng Huang; Tamas Revesz; J P Martinez-Barbera; Robert A Sisk; Craig Jefferies; Henry Houlden; Mehul T Dattani; John K Fink; Helene Dollfus; Anthony T Moore; Zubair M Ahmed
Journal:  J Med Genet       Date:  2014-12-05       Impact factor: 6.318

10.  Glial expression of Swiss cheese (SWS), the Drosophila orthologue of neuropathy target esterase (NTE), is required for neuronal ensheathment and function.

Authors:  Sudeshna Dutta; Franziska Rieche; Nina Eckl; Carsten Duch; Doris Kretzschmar
Journal:  Dis Model Mech       Date:  2015-12-03       Impact factor: 5.758
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