Cargando…

Spectrum of PEX1 and PEX6 variants in Heimler syndrome

Heimler syndrome (HS) consists of recessively inherited sensorineural hearing loss, amelogenesis imperfecta (AI) and nail abnormalities, with or without visual defects. Recently HS was shown to result from hypomorphic mutations in PEX1 or PEX6, both previously implicated in Zellweger Syndrome Spectr...

Descripción completa

Detalles Bibliográficos
Autores principales:	Smith, Claire E L, Poulter, James A, Levin, Alex V, Capasso, Jenina E, Price, Susan, Ben-Yosef, Tamar, Sharony, Reuven, Newman, William G, Shore, Roger C, Brookes, Steven J, Mighell, Alan J, Inglehearn, Chris F
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5026821/ https://www.ncbi.nlm.nih.gov/pubmed/27302843 http://dx.doi.org/10.1038/ejhg.2016.62

Ejemplares similares

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
por: Ratbi, Ilham, et al.
Publicado: (2015)

Identification of a Homozygous PEX26 Mutation in a Heimler Syndrome Patient
por: Kim, Youn Jung, et al.
Publicado: (2021)

Intraoperative Dilemmas in Polyorchidism: To Pex or not to Pex!!
por: Mittal, Priyanka Garg, et al.
Publicado: (2020)

The Pex6 N1 domain is required for Pex15 binding and proper assembly with Pex1
por: Ali, Bashir A., et al.
Publicado: (2023)

Pex12 Interacts with Pex5 and Pex10 and Acts Downstream of Receptor Docking in Peroxisomal Matrix Protein Import
por: Chang, Chia-Che, et al.
Publicado: (1999)

Membrane Interactions of the Peroxisomal Proteins PEX5 and PEX14
por: Gaussmann, Stefan, et al.
Publicado: (2021)

Deficiency of the exportomer components Pex1, Pex6, and Pex15 causes enhanced pexophagy in Saccharomyces cerevisiae
por: Nuttall, James M, et al.
Publicado: (2014)

Association between the Intrinsically Disordered Protein PEX19 and PEX3
por: Hattula, Katarina, et al.
Publicado: (2014)

The peroxins BcPex8, BcPex10, and BcPex12 are required for the development and pathogenicity of Botrytis cinerea
por: Li, Ling, et al.
Publicado: (2022)

Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex
por: Schieferdecker, Anne, et al.
Publicado: (2019)

The unique degradation pathway of the PTS2 receptor, Pex7, is dependent on the PTS receptor/coreceptor, Pex5 and Pex20
por: Hagstrom, Danielle, et al.
Publicado: (2014)

PEX13 prevents pexophagy by regulating ubiquitinated PEX5 and peroxisomal ROS
por: Demers, Nicholas D., et al.
Publicado: (2023)

Insights into the Structure and Function of the Pex1/Pex6 AAA-ATPase in Peroxisome Homeostasis
por: Judy, Ryan M., et al.
Publicado: (2022)

The Structure of the Arabidopsis PEX4-PEX22 Peroxin Complex—Insights Into Ubiquitination at the Peroxisomal Membrane
por: Traver, Melissa S., et al.
Publicado: (2022)

Hemorrhoidopexy with the HemorPex System
por: Tagliabue, M., et al.
Publicado: (2015)

PEX16 contributes to peroxisome maintenance by constantly trafficking PEX3 via the ER
por: Aranovich, Alexander, et al.
Publicado: (2014)

The peroxisomal AAA-ATPase Pex1/Pex6 unfolds substrates by processive threading
por: Gardner, Brooke M., et al.
Publicado: (2018)

Structure of the peroxisomal Pex1/Pex6 ATPase complex bound to a substrate
por: Rüttermann, Maximilian, et al.
Publicado: (2023)

Expanding the clinical and genetic spectrum of Heimler syndrome
por: Gao, Feng-Juan, et al.
Publicado: (2019)

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms
por: Kumar, Kishore R., et al.
Publicado: (2018)

A Mechanistic Perspective on PEX1 and PEX6, Two AAA+ Proteins of the Peroxisomal Protein Import Machinery
por: Pedrosa, Ana G., et al.
Publicado: (2019)

Novel Trypanocidal Inhibitors that Block Glycosome Biogenesis by Targeting PEX3–PEX19 Interaction
por: Li, Mengqiao, et al.
Publicado: (2021)

The peroxisomal membrane protein import receptor Pex3p is directly transported to peroxisomes by a novel Pex19p- and Pex16p-dependent pathway
por: Matsuzaki, Takashi, et al.
Publicado: (2008)

The Cytosolic Domain of Pex22p Stimulates the Pex4p-Dependent Ubiquitination of the PTS1-Receptor
por: El Magraoui, Fouzi, et al.
Publicado: (2014)

PEX3 functions as a PEX19 docking factor in the import of class I peroxisomal membrane proteins
por: Fang, Yi, et al.
Publicado: (2004)

Yeast pex1 cells contain peroxisomal ghosts that import matrix proteins upon reintroduction of Pex1
por: Knoops, Kèvin, et al.
Publicado: (2015)

De Novo Peroxisome Biogenesis in Penicillium Chrysogenum Is Not Dependent on the Pex11 Family Members or Pex16
por: Opaliński, Łukasz, et al.
Publicado: (2012)

Peroxin FgPEX22-Like Is Involved in FgPEX4 Tethering and Fusarium graminearum Pathogenicity
por: Zhang, Li, et al.
Publicado: (2021)

Recognition and Chaperoning by Pex19, Followed by Trafficking and Membrane Insertion of the Peroxisome Proliferation Protein, Pex11
por: Zientara-Rytter, Katarzyna M., et al.
Publicado: (2022)

Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read‐through, and PEX26 mutated in Heimler syndrome
por: Neuhaus, Christine, et al.
Publicado: (2017)

PEX26 takes the direct route
por: Short, Ben
Publicado: (2013)

AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder
por: Argyriou, Catherine, et al.
Publicado: (2021)

The peroxin Pex34p functions with the Pex11 family of peroxisomal divisional proteins to regulate the peroxisome population in yeast
por: Tower, Robert J., et al.
Publicado: (2011)

Peroxisomal Membrane Fusion Requires Two Aaa Family Atpases, Pex1p and Pex6p
por: Titorenko, Vladimir I., et al.
Publicado: (2000)

Revisiting the intraperoxisomal pathway of mammalian PEX7
por: Rodrigues, Tony A., et al.
Publicado: (2015)

Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients
por: Thoms, Sven, et al.
Publicado: (2011)

Perceptions of the PrePex Device Among Men Who Received or Refused PrePex Circumcision and People Accompanying Them
por: Milovanovic, Minja, et al.
Publicado: (2016)

Membrane curvature during peroxisome fission requires Pex11
por: Opaliński, Łukasz, et al.
Publicado: (2011)

Involvement of Pex13p in Pex14p Localization and Peroxisomal Targeting Signal 2–dependent Protein Import into Peroxisomes
por: Girzalsky, Wolfgang, et al.
Publicado: (1999)

Drosophila Carrying Pex3 or Pex16 Mutations Are Models of Zellweger Syndrome That Reflect Its Symptoms Associated with the Absence of Peroxisomes
por: Nakayama, Minoru, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_tina5vncjmr5gj9f6js678m6lv