| [Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review]. | [Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review].
Yang P, Zeng CZ, Tao XW, Rong SW, Long Y, Zeng LK. | 01/8/2024 |
| A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder. | A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.
Galarreta CI, Wong K, Carmichael J, Woods J, Tise CG, Niehaus AD, Schildt AJ, Verscaj CP, Cusmano-Ozog KP. | 09/12/2023 |
| The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature. | The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
Daich Varela M, Jani P, Zein WM, D'Souza P, Wolfe L, Chisholm J, Zalewski C, Adams D, Warner BM, Huryn LA, Hufnagel RB., Free PMC Article | 06/5/2021 |
| Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment. | Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.
García-García G, Sanchez-Navarro I, Aller E, Jaijo T, Fuster-Garcia C, Rodríguez-Munoz A, Vallejo E, Tellería JJ, Vázquez S, Beltrán S, Derdak S, Zurita O, Villaverde-Montero C, Avila-Fernández A, Corton M, Blanco-Kelly F, Hakonarson H, Millán JM, Ayuso C., Free PMC Article | 04/24/2021 |
| There are no significant differences between PEX1-, PEX6-, and PEX26-associated phenotypes inclinical and genetic spectrum of Heimler syndrome. | Expanding the clinical and genetic spectrum of Heimler syndrome.
Gao FJ, Hu FY, Xu P, Qi YH, Li JK, Zhang YJ, Chen F, Chang Q, Song F, Shen SM, Xu GZ, Wu JH., Free PMC Article | 08/1/2020 |
| This article reviews the abundant records of missense mutations described in Peroxisome biogenesis disorders patients with the aim to classify and rationalize them by mapping them onto a homology model of the human Pex1/Pex6 complex. [review] | Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex.
Schieferdecker A, Wendler P., Free PMC Article | 01/11/2020 |
| Mutation in PAX6 gene is associated with Ophthalmic manifestations of Heimler syndrome. | Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.
Wangtiraumnuay N, Alnabi WA, Tsukikawa M, Thau A, Capasso J, Sharony R, Inglehearn CF, Levin AV. | 04/13/2019 |
| This study provides evidence suggesting that monoubiquitinated PEX5 interacts directly with both PEX1 and PEX6 through its ubiquitin moiety and that the PEX5 polypeptide chain is globally unfolded during the ATP-dependent extraction event. | Peroxisomal monoubiquitinated PEX5 interacts with the AAA ATPases PEX1 and PEX6 and is unfolded during its dislocation into the cytosol.
Pedrosa AG, Francisco T, Bicho D, Dias AF, Barros-Barbosa A, Hagmann V, Dodt G, Rodrigues TA, Azevedo JE., Free PMC Article | 02/9/2019 |
| A novel homozygous PEX6 p.Ala94Pro mutation. | Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.
Rydzanicz M, Stradomska TJ, Jurkiewicz E, Jamroz E, Gasperowicz P, Kostrzewa G, Płoski R, Tylki-Szymańska A. | 02/3/2018 |
| Overexpression models confirmed that the overrepresentation of the pathogenic PEX6 c.2578T variant compared to wild-type PEX6 c.2578C results in a peroxisome biogenesis defect and thus constitutes the cause of disease in the affected individuals. | Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
Falkenberg KD, Braverman NE, Moser AB, Steinberg SJ, Klouwer FCC, Schlüter A, Ruiz M, Pujol A, Engvall M, Naess K, van Spronsen F, Körver-Keularts I, Rubio-Gozalbo ME, Ferdinandusse S, Wanders RJA, Waterham HR., Free PMC Article | 01/6/2018 |
| PEX6 identified as the 6p21 SCABD gene in a family with spinocerebellar ataxia with blindness and deafness. | Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).
Guissart C, Drouot N, Oncel I, Leheup B, Gershoni-Barush R, Muller J, Ferdinandusse S, Larrieu L, Anheim M, Arslan EA, Claustres M, Tranchant C, Topaloglu H, Koenig M., Free PMC Article | 07/29/2017 |
| Heimler syndrome is due to four novel and two known missense variants and an 8 bp deletion in PEX6 in five families. | Spectrum of PEX1 and PEX6 variants in Heimler syndrome.
Smith CE, Poulter JA, Levin AV, Capasso JE, Price S, Ben-Yosef T, Sharony R, Newman WG, Shore RC, Brookes SJ, Mighell AJ, Inglehearn CF., Free PMC Article | 07/8/2017 |
| the current study revealed novel expression quantitative trait loci (eQTLs) for SNHG5 and PEX6 genes in chromosome 6. Nucleotide substitutions of the eQTLs might be candidate factors for a variety of cancers by regulating expression of the 2 genes. | Strong cis-acting expression quantitative trait loci for the genes encoding SNHG5 and PEX6.
Lee J, Ryu J, Lee C., Free PMC Article | 02/18/2017 |
| As standard biochemical screening of blood for evidence of a peroxisomal disorder did not provide a diagnosis in the individuals with Heimler syndrome, patients with sensorineural hearing lossand retinal pigmentation should have mutation analysis of PEX1 and PEX6 genes. | Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.
Ratbi I, Jaouad IC, Elorch H, Al-Sheqaih N, Elalloussi M, Lyahyai J, Berraho A, Newman WG, Sefiani A. | 02/18/2017 |
| PEX6 is expressed in photoreceptor cilia and mutated in deafblindness with enamel dysplasia and microcephaly. | PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
Zaki MS, Heller R, Thoenes M, Nürnberg G, Stern-Schneider G, Nürnberg P, Karnati S, Swan D, Fateen E, Nagel-Wolfrum K, Mostafa MI, Thiele H, Wolfrum U, Baumgart-Vogt E, Bolz HJ. | 10/22/2016 |
| Our structural data suggest that the tilting of a central segment of a Pex1-Pex6 pair is responsible for polypeptide movement. | Structures of the double-ring AAA ATPase Pex1-Pex6 involved in peroxisome biogenesis.
Tan D, Blok NB, Rapoport TA, Walz T., Free PMC Article | 08/6/2016 |
| Mutations in PEX6 gene is associated with Heimler Syndrome. | Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G., Free PMC Article | 01/16/2016 |
| results suggested that peroxisome biogenesis requires Pex1p- and Pex6p-regulated dissociation of Pex14p from Pex26p | AAA peroxins and their recruiter Pex26p modulate the interactions of peroxins involved in peroxisomal protein import.
Tamura S, Matsumoto N, Takeba R, Fujiki Y., Free PMC Article | 01/24/2015 |
| increased incidence of Zellweger syndrome in French-Canadians of Lac-St-Jean region caused by a PEX6 founder mutation | A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.
Levesque S, Morin C, Guay SP, Villeneuve J, Marquis P, Yik WY, Jiralerspong S, Bouchard L, Steinberg S, Hacia JG, Dewar K, Braverman NE., Free PMC Article | 01/5/2013 |
| hybrid exercise increases expression of eukaryotic translation initiation factor 5A (EIFSA), peroxisomal biogenesis factor 6 (PEX6) and histone cluster 1 H4 (HIST1H4), compared with electrical stimulation alone | "Hybrid exercise" prevents muscle atrophy in association with a distinct gene expression pattern.
Matsugaki T, Shiba N, Kohno S, Nikawa T, Hirasaka K, Okumura Y, Ishidoh K, Soejima T, Yoshimitsu K, Nagata K. | 12/17/2011 |
| We identified a total of 77 different mutations in Zellweger syndrome patients of which 47 mutations have not been reported previously, and 14 polymorphic variants. | Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.
Ebberink MS, Kofster J, Wanders RJ, Waterham HR. | 03/15/2010 |
| Leigh syndrome presenting the T8993G mutation in the ATPase 6 gene with variable heteroplasmic loads (44-98%) in a single Tunisian family is a novel finding. | Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family.
Mkaouar-Rebai E, Chaari W, Younes S, Bousoffara R, Sfar MT, Fakhfakh F. | 01/21/2010 |
| the relative fraction of disease-causing alleles that occur in the coding and splice junction sequences of PEX6 gene. | Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Yik WY, Steinberg SJ, Moser AB, Moser HW, Hacia JG., Free PMC Article | 01/21/2010 |
| A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents | A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.
Raas-Rothschild A, Wanders RJ, Mooijer PA, Gootjes J, Waterham HR, Gutman A, Suzuki Y, Shimozawa N, Kondo N, Eshel G, Espeel M, Roels F, Korman SH., Free PMC Article | 01/21/2010 |
| Insufficient binding to Pex1p x Pex6p complexes, or mislocalization of patient-derived Pex26p mutants is most likely responsible for the complementation group impaired peroxisome biogenesis. | Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.
Furuki S, Tamura S, Matsumoto N, Miyata N, Moser A, Moser HW, Fujiki Y. | 01/21/2010 |