Cargando…

PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature

Detalles Bibliográficos
Autores principales:	Nanetti, Lorenzo, Pensato, Viviana, Leoni, Valerio, Rizzetto, Manuela, Caccia, Claudio, Taroni, Franco, Mariotti, Caterina, Gellera, Cinzia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Neurological Association 2015
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4387488/ https://www.ncbi.nlm.nih.gov/pubmed/25851898 http://dx.doi.org/10.3988/jcn.2015.11.2.197

Ejemplares similares

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein
por: Nanetti, Lorenzo, et al.
Publicado: (2013)

Progression of Cerebellar Atrophy in Spinocerebellar Ataxia Type 2 Gene Carriers: A Longitudinal MRI Study in Preclinical and Early Disease Stages
por: Nigri, Anna, et al.
Publicado: (2020)

Late-onset Huntington’s disease with 40–42 CAG expansion
por: Capiluppi, Elisa, et al.
Publicado: (2019)

Very Late-Onset Friedreich Ataxia with Laryngeal Dystonia
por: Rota, Silvia, et al.
Publicado: (2014)

Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms
por: Pensato, Viviana, et al.
Publicado: (2020)

Somatosensory Conduction Pathway in Spastic Paraplegia Type 5
por: Vanotti, Alessandra, et al.
Publicado: (2014)

Late presentation of RPE65 retinopathy in three siblings
por: Magliyah, Moustafa, et al.
Publicado: (2020)

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
por: Sevin, Caroline, et al.
Publicado: (2011)

GAD Antibody-Associated Late-Onset Cerebellar Ataxia in Two Female Siblings
por: Kuchling, Joseph, et al.
Publicado: (2014)

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms
por: Salsano, Ettore, et al.
Publicado: (2012)

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

Cortical markers of cognitive syndromes in amyotrophic lateral sclerosis
por: Consonni, Monica, et al.
Publicado: (2018)

Identification of ATM Mutations in Korean Siblings with Ataxia-Telangiectasia
por: Huh, Hee Jae, et al.
Publicado: (2013)

Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization
por: Rondon-Melo, Silmara, et al.
Publicado: (2017)

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

Spectrum of PEX1 and PEX6 variants in Heimler syndrome
por: Smith, Claire E L, et al.
Publicado: (2016)

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)

Hypomyelination and Congenital Cataract: Three Siblings Presentation
por: Karalok, Zeynep Selen, et al.
Publicado: (2020)

Cataract and diabetic retinopathy
por: Rice, James
Publicado: (2011)

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)

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

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

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)

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)

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

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

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

Prediction of the disease course in Friedreich ataxia
por: Hohenfeld, Christian, et al.
Publicado: (2022)

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

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

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

Cataract in retinopathy of prematurity – A review
por: Khokhar, Sudarshan, et al.
Publicado: (2022)

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)

Glutamine Synthetase 1 Increases Autophagy Lysosomal Degradation of Mutant Huntingtin Aggregates in Neurons, Ameliorating Motility in a Drosophila Model for Huntington’s Disease
por: Vernizzi, Luisa, et al.
Publicado: (2020)

Cognitive Syndromes and C9orf72 Mutation Are Not Related to Cerebellar Degeneration in Amyotrophic Lateral Sclerosis
por: Consonni, Monica, et al.
Publicado: (2019)

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

Cannot write session to /tmp/vufind_sessions/sess_d6l51v9vvntk6vht8athl2ucfj