Cargando…

Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency

Peroxisomes share metabolic pathways with other organelles and peroxisomes are embedded into key cellular processes. However, the specific function of many peroxisomal proteins remains unclear and restricted knowledge of the peroxisomal protein interaction network limits a precise mapping of this ne...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lotz-Havla, Amelie S., Woidy, Mathias, Guder, Philipp, Schmiesing, Jessica, Erdmann, Ralf, Waterham, Hans R., Muntau, Ania C., Gersting, Søren W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8600046/ https://www.ncbi.nlm.nih.gov/pubmed/34804114 http://dx.doi.org/10.3389/fgene.2021.726174

Ejemplares similares

Inborn errors of metabolism and the human interactome: a systems medicine approach
por: Woidy, Mathias, et al.
Publicado: (2018)

Edgetic perturbation models of human inherited disorders
por: Zhong, Quan, et al.
Publicado: (2009)

Edgetic perturbation of a C. elegans BCL2 ortholog
por: Dreze, Matija, et al.
Publicado: (2009)

Edgetic perturbation signatures represent known and novel cancer biomarkers
por: Kataka, Evans, et al.
Publicado: (2020)

Author Correction: Edgetic perturbation signatures represent known and novel cancer biomarkers
por: Kataka, Evans, et al.
Publicado: (2021)

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

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

bZIP edgetic mutations: at the frontier of plant metabolism, development and stress trade-off
por: Lorenzo, Oscar
Publicado: (2019)

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

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

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
por: Sevin, Caroline, 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)

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

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

Molecular snapshots of the Pex1/6 AAA+ complex in action
por: Ciniawsky, Susanne, et al.
Publicado: (2015)

PEX26 gene genotype-phenotype correlation in neonates with Zellweger syndrome
por: He, Yue, et al.
Publicado: (2021)

Tail-anchored PEX26 targets peroxisomes via a PEX19-dependent and TRC40-independent class I pathway
por: Yagita, Yuichi, et al.
Publicado: (2013)

Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1
por: Barroso, Madalena, et al.
Publicado: (2023)

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

Specific CD4+ T Cell Responses to Ancestral SARS-CoV-2 in Children Increase With Age and Show Cross-Reactivity to Beta Variant
por: Paul, Kevin, et al.
Publicado: (2022)

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening
por: Maier, Esther M., et al.
Publicado: (2009)

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

Membrane Processing and Steady-State Regulation of the Alternative Peroxisomal Import Receptor Pex9p
por: Rudowitz, Markus, et al.
Publicado: (2020)

Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia
por: Lotz-Havla, Amelie S., et al.
Publicado: (2023)

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

Ubiquitination of the peroxisomal import receptor Pex5p is required for its recycling
por: Platta, Harald W., et al.
Publicado: (2007)

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

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

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial
por: Muntau, Ania C., et al.
Publicado: (2021)

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)

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants
por: Lipiński, Patryk, et al.
Publicado: (2019)

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)

Serum glial fibrillary acidic protein and neurofilament light chain in patients with early treated phenylketonuria
por: Lotz-Havla, Amelie S., et al.
Publicado: (2022)

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)

Molecular basis of the glycosomal targeting of PEX11 and its mislocalization to mitochondrion in trypanosomes
por: Krishna, Chethan K., et al.
Publicado: (2023)

Structural Equation Modeling of In silico Perturbations
por: Li, Jianying, et al.
Publicado: (2021)

Cysteine-specific ubiquitination protects the peroxisomal import receptor Pex5p against proteasomal degradation
por: Schwartzkopff, Benjamin, et al.
Publicado: (2015)

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

Cannot write session to /tmp/vufind_sessions/sess_211kuc25gsqh0cpl1bgn5flak1