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Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1469686
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- Publication type:
- Article
The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis.
- Published in:
- 2016
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- Publication type:
- journal article
Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase.
- Published in:
- 2006
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- Publication type:
- journal article
Delineating the expanding phenotype associated with SCAPER gene mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1665, doi. 10.1002/ajmg.a.61202
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- Publication type:
- Article
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.
- Published in:
- Nature Genetics, 2008, v. 40, n. 11, p. 1285, doi. 10.1038/ng.241
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- Publication type:
- Article
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.
- Published in:
- Nature Genetics, 2005, v. 37, n. 2, p. 166, doi. 10.1038/ng1501
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- Publication type:
- Article
The Leber Congenital Amaurosis Protein AIPL1 and EB Proteins Co-Localize at the Photoreceptor Cilium.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0121440
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- Publication type:
- Article
Molecular Chaperone Mediated Late-Stage Neuroprotection in the SOD1<sup>G93A</sup> Mouse Model of Amyotrophic Lateral Sclerosis.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0073944
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- Publication type:
- Article
Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0032330
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- Publication type:
- Article
The Inherited Blindness Protein AIPL1 Regulates the Ubiquitin-Like FAT10 Pathway.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0030866
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- Publication type:
- Article
Differential Expression of Two Distinct Functional Isoforms of Melanopsin (Opn4) in the Mammalian Retina.
- Published in:
- Journal of Neuroscience, 2009, v. 29, n. 39, p. 12332, doi. 10.1523/JNEUROSCI.2036-09.2009
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- Publication type:
- Article
Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).
- Published in:
- 2016
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- Publication type:
- journal article
A look into retinal organoids: methods, analytical techniques, and applications.
- Published in:
- Cellular & Molecular Life Sciences, 2021, v. 78, n. 19/20, p. 6505, doi. 10.1007/s00018-021-03917-4
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- Publication type:
- Article
Suppression of protein aggregation by chaperone modification of high molecular weight complexes.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 4, p. 1180, doi. 10.1093/brain/aws022
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- Publication type:
- Article
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
- Published in:
- PLoS Genetics, 2024, v. 20, n. 5, p. 1, doi. 10.1371/journal.pgen.1011230
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- Publication type:
- Article
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 4, p. 595, doi. 10.1093/hmg/ddac227
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- Publication type:
- Article
A simple cell based assay to measure Parkin activity.
- Published in:
- Journal of Neurochemistry, 2011, v. 116, n. 3, p. 342, doi. 10.1111/j.1471-4159.2010.07113.x
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- Publication type:
- Article
Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 20, p. 3478, doi. 10.1093/hmg/ddac128
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- Publication type:
- Article
Corrigendum to: The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 19, p. 3338, doi. 10.1093/hmg/ddaa190
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- Publication type:
- Article
AAV-mediated ERdj5 overexpression protects against P23H rhodopsin toxicity.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 8, p. 1310, doi. 10.1093/hmg/ddaa049
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- Publication type:
- Article
Negative Regulator of Ubiquitin-Like Protein 1 modulates the autophagy–lysosomal pathway via p62 to facilitate the extracellular release of tau following proteasome impairment.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 1, p. 80, doi. 10.1093/hmg/ddz255
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- Publication type:
- Article
The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4896, doi. 10.1093/hmg/ddx370
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- Publication type:
- Article
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 17, p. 3451, doi. 10.1093/hmg/ddx245
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- Publication type:
- Article
REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 14, p. 2667, doi. 10.1093/hmg/ddx149
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- Publication type:
- Article
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 13, p. 2480, doi. 10.1093/hmg/ddx143
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- Publication type:
- Article
Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 3, p. 611, doi. 10.1093/hmg/ddw420
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- Publication type:
- Article
Rescue of mutant rhodopsin traffic by metformin-induced AMPK activation accelerates photoreceptor degeneration.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 2, p. 305, doi. 10.1093/hmg/ddw387
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- Publication type:
- Article
Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 4, p. 972, doi. 10.1093/hmg/ddu509
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- Publication type:
- Article
The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 24, p. 6594, doi. 10.1093/hmg/ddu385
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- Publication type:
- Article
Hsp90 inhibition protects against inherited retinal degeneration.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 8, p. 2164
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- Publication type:
- Article
NUB1 modulation of GSK3β reduces tau aggregation.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 24, p. 5254, doi. 10.1093/hmg/dds376
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- Publication type:
- Article
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 16, p. 3647, doi. 10.1093/hmg/dds194
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- Publication type:
- Article
The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 4, p. 863, doi. 10.1093/hmg/ddr520
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- Publication type:
- Article
Antisense oligonucleotide treatment in CEP290‐related leber congenital amaurosis.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.8296
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- Publication type:
- Article
Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies.
- Published in:
- Biochemical Society Transactions, 2016, v. 44, n. 5, p. 1245, doi. 10.1042/BST20160156
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- Publication type:
- Article
955. Utilising Viral Gene Transfer to Model Polyglutamine Diseases and Study the Effects of Heat Shock Proteins
- Published in:
- 2005
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- Publication type:
- Abstract
Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 12, p. 1575, doi. 10.3390/cells12121575
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- Publication type:
- Article
Chaperoning against neuronal vulnerability (Commentary on Zijlstra et al.).
- Published in:
- European Journal of Neuroscience, 2010, v. 32, n. 5, p. 759, doi. 10.1111/j.1460-9568.2010.07388.x
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- Publication type:
- Article
The cell stress machinery and retinal degeneration.
- Published in:
- FEBS Letters, 2013, v. 587, n. 13, p. 2008, doi. 10.1016/j.febslet.2013.05.020
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- Publication type:
- Article
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 80, doi. 10.1002/humu.23349
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- Publication type:
- Article
Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants.
- Published in:
- Human Mutation, 2014, v. 35, n. 11, p. 1354, doi. 10.1002/humu.22679
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- Publication type:
- Article
Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 1, p. 16, doi. 10.1093/hmg/ddq428
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- Publication type:
- Article
The Nance–Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 12, p. 2421, doi. 10.1093/hmg/ddq125
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- Publication type:
- Article
The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 7, p. 1358, doi. 10.1093/hmg/ddq012
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- Publication type:
- Article
The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1556, doi. 10.1093/hmg/ddp067
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- Publication type:
- Article
Pharmacological manipulation of gain-of-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 19, p. 3043, doi. 10.1093/hmg/ddn202
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- Publication type:
- Article
Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 24, p. 3065, doi. 10.1093/hmg/11.24.3065
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- Publication type:
- Article
The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 7, p. 823, doi. 10.1093/hmg/11.7.823
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- Publication type:
- Article
Not all J domains are created equal: Implications for the specificity of Hsp40-Hsp70 interactions.
- Published in:
- Protein Science: A Publication of the Protein Society, 2005, v. 14, n. 7, p. 1697, doi. 10.1110/ps.051406805
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- Publication type:
- Article
Late stage treatment with arimoclomol delays disease progression and prevents protein aggregation in the SOD1<sup>G93A</sup> mouse model of ALS.
- Published in:
- Journal of Neurochemistry, 2008, v. 107, n. 2, p. 339, doi. 10.1111/j.1471-4159.2008.05595.x
- By:
- Publication type:
- Article