Related references
Note: Only part of the references are listed.Patient reported quality of life and medication adherence in Fabry disease patients treated with migalastat: A prospective, multicenter study
Jonas Muentze et al.
MOLECULAR GENETICS AND METABOLISM (2023)
Use of 2,6-diaminopurine as a potent suppressor of UGA premature stop codons in cystic fibrosis
Catherine Leroy et al.
MOLECULAR THERAPY (2023)
Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner
Sylwia Michorowska
PHARMACEUTICALS (2021)
Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts
Emanuele Buratti et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2021)
Simultaneous high-efficiency base editing and reprogramming of patient fibroblasts
Sami Jalil et al.
STEM CELL REPORTS (2021)
Molecular Alterations in Sporadic and SOD1-ALS Immortalized Lymphocytes: Towards a Personalized Therapy
Isabel Lastres-Becker et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
Towards Splicing Therapy for Lysosomal Storage Disorders: Methylxanthines and Luteolin Ameliorate Splicing Defects in Aspartylglucosaminuria and Classic Late Infantile Neuronal Ceroid Lipofuscinosis
Antje Banning et al.
CELLS (2021)
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment
Eugen Mengel et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2021)
Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations
Min-Joon Han et al.
STEM CELL RESEARCH (2020)
Precision Medicine in Rare Diseases
Irene Villalon-Garcia et al.
DISEASES (2020)
Mechanism-Based Personalized Medicine for Cystic Fibrosis by Suppressing Pseudo Exon Inclusion
Saiko Shibata et al.
CELL CHEMICAL BIOLOGY (2020)
Generation of 2 iPSC clones from a patient with DNAJC12 deficiency: DHMCi003-A and DHMCi003-B
Sabine Jung-Klawitter et al.
STEM CELL RESEARCH (2019)
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
J. Kim et al.
NEW ENGLAND JOURNAL OF MEDICINE (2019)
Zellweger spectrum disorder patient-derived fibroblasts with the PEX1-Gly843Asp allele recover peroxisome functions in response to flavonoids
Gillian E. MacLean et al.
JOURNAL OF CELLULAR BIOCHEMISTRY (2019)
Caffeine boosts Ataluren's readthrough activity
Laura Lentini et al.
HELIYON (2019)
Food-Derived Compounds Apigenin and Luteolin Modulate mRNA Splicing of Introns with Weak Splice Sites
Masashi Kurata et al.
ISCIENCE (2019)
Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria
Antje Banning et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2018)
Chemical compound-based direct reprogramming for future clinical applications
Yukimasa Takeda et al.
BIOSCIENCE REPORTS (2018)
Randomized, double-blind, placebo-controlled trial of arimoclomol in rapidly progressive SOD1 ALS
Michael Benatar et al.
NEUROLOGY (2018)
Induced Pluripotent Stem Cell Modeling of Gaucher's Disease: What Have We Learned?
Dino Matias Santos et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2017)
Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses
Kristiina Uusi-Rauva et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2017)
Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1
Sabine Jung-Klawitter et al.
STEM CELL RESEARCH (2017)
Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises
Fedah E. Mohamed et al.
FRONTIERS IN PHARMACOLOGY (2017)
A Splicing Reporter Tuned to Non-AG Acceptor Sites Reveals that Luteolin Enhances the Recognition of Non-canonical Acceptor Sites
Masanori Chiba et al.
CHEMICAL BIOLOGY & DRUG DESIGN (2016)
Nusinersen potentially effective in SMA
Louise Adams
Nature Reviews Neurology (2016)
Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses
Thomas Kirkegaard et al.
SCIENCE TRANSLATIONAL MEDICINE (2016)
Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC
Sabine Jung-Klawitter et al.
STEM CELL RESEARCH (2016)
Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease
Su Min Lim et al.
ONCOTARGET (2016)
Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria
Antje Banning et al.
SCIENTIFIC REPORTS (2016)
Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders
Giancarlo Parenti et al.
MOLECULAR THERAPY (2015)
The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations
Judit Macias-Vidal et al.
FEBS JOURNAL (2014)
Pharmacological chaperone therapy for lysosomal storage diseases
Giancarlo Parenti et al.
FUTURE MEDICINAL CHEMISTRY (2014)
Direct Reprogramming of Human Fibroblasts to Hepatocyte-Like Cells by Synthetic Modified mRNAs
Kamen P. Simeonov et al.
PLOS ONE (2014)
Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease
Ari Zimran et al.
BLOOD CELLS MOLECULES AND DISEASES (2013)
Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase
Inna Bendikov-Bar et al.
BLOOD CELLS MOLECULES AND DISEASES (2013)
Skin Punch Biopsy Explant Culture for Derivation of Primary Human Fibroblasts
Malini Vangipuram et al.
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS (2013)
Pharmacological Enhancement of α-Glucosidase by the Allosteric Chaperone N-acetylcysteine
Caterina Porto et al.
MOLECULAR THERAPY (2012)
Small molecules enable highly efficient neuronal conversion of human fibroblasts
Julia Ladewig et al.
NATURE METHODS (2012)
Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients
Chinmoy Sarkar et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Site-specific integration and tailoring of cassette design for sustainable gene transfer
Angelo Lombardo et al.
NATURE METHODS (2011)
Kinetin Improves IKBKAP mRNA Splicing in Patients With Familial Dysautonomia
Felicia B. Axelrod et al.
PEDIATRIC RESEARCH (2011)
Genetic therapies for RNA mis-splicing diseases
Suzan M. Hammond et al.
TRENDS IN GENETICS (2011)
Direct conversion of fibroblasts to functional neurons by defined factors
Thomas Vierbuchen et al.
NATURE (2010)
Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds
Rui Zhang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Chemical and biological approaches synergize to ameliorate protein-folding diseases
Ting-Wei Mu et al.
CELL (2008)
A meta-analysis of nonsense mutations causing human genetic disease
Matthew Mort et al.
HUMAN MUTATION (2008)
PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model
Ming Du et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
PTC124 targets genetic disorders caused by nonsense mutations
Ellen M. Welch et al.
NATURE (2007)
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis
Gustavo H. B. Maegawa et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Share Paper
