Premature termination codon readthrough upregulates progranulin expression and improves lysosomal function in preclinical models of GRN deficiency

Progranulin Stimulates the In Vitro Maturation of Pro-Cathepsin D at Acidic pH

(2019) Victoria J. Butler et al.   JOURNAL OF MOLECULAR BIOLOGY

Frontotemporal dementia non-sense mutation of progranulin rescued by aminoglycosides

(2019) Lisha Kuang et al.   HUMAN MOLECULAR GENETICS

Generation of an induced pluripotent stem cell line (UBCi001-A) from a presymptomatic individual carrying the R418X progranulin gene mutation

(2019) J. Frew et al.   Stem Cell Research

Leptomeninges-Derived Induced Pluripotent Stem Cells and Directly Converted Neurons From Autopsy Cases With Varying Neuropathologic Backgrounds

(2018) Shannon E Rose et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Progranulin Gene Therapy Improves Lysosomal Dysfunction and Microglial Pathology Associated with Frontotemporal Dementia and Neuronal Ceroid Lipofuscinosis

(2018) Andrew E. Arrant et al.   JOURNAL OF NEUROSCIENCE

Murine knockin model for progranulin-deficient frontotemporal dementia with nonsense-mediated mRNA decay

(2018) Andrew D. Nguyen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Early lysosomal maturation deficits in microglia triggers enhanced lysosomal activity in other brain cells of progranulin knockout mice

(2018) Julia K. Götzl et al.   Molecular Neurodegeneration

Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients

(2017) Clarissa Valdez et al.   HUMAN MOLECULAR GENETICS

Progranulin functions as a cathepsin D chaperone to stimulate axonal outgrowth in vivo

(2017) Sander Beel et al.   HUMAN MOLECULAR GENETICS

The lysosomal protein cathepsin L is a progranulin protease

(2017) Chris W. Lee et al.   Molecular Neurodegeneration

Trehalose upregulates progranulin expression in human and mouse models of GRN haploinsufficiency: a novel therapeutic lead to treat frontotemporal dementia

(2016) Christopher J. Holler et al.   Molecular Neurodegeneration

Novel small molecules potentiate premature termination codon readthrough by aminoglycosides

(2016) Alireza Baradaran-Heravi et al.   NUCLEIC ACIDS RESEARCH

New inducible genetic method reveals critical roles of GABA in the control of feeding and metabolism

(2016) Fantao Meng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neuronal medium that supports basic synaptic functions and activity of human neurons in vitro

(2015) Cedric Bardy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Nonsense suppression by near-cognate tRNAs employs alternative base pairing at codon positions 1 and 3

(2015) Bijoyita Roy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Intracerebroventricular Viral Injection of the Neonatal Mouse Brain for Persistent and Widespread Neuronal Transduction

(2014) Ji-Yoen Kim et al.   Jove-Journal of Visualized Experiments

Targeted manipulation of the sortilin–progranulin axis rescues progranulin haploinsufficiency

(2013) Wing C. Lee et al.   HUMAN MOLECULAR GENETICS

Direct Intraventricular Delivery of Drugs to the Rodent Central Nervous System

(2013) Sarah L. DeVos et al.   Jove-Journal of Visualized Experiments

Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia

(2012) Rocío Sánchez-Alcudia et al.   HUMAN MUTATION

Locus-specific mutation databases for neurodegenerative brain diseases

(2012) Marc Cruts et al.   HUMAN MUTATION

Induced Pluripotent Stem Cell Models of Progranulin-Deficient Frontotemporal Dementia Uncover Specific Reversible Neuronal Defects

(2012) Sandra Almeida et al.   Cell Reports

Suberoylanilide Hydroxamic Acid (Vorinostat) Up-regulates Progranulin Transcription

(2011) Basar Cenik et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse

(2011) Dan Wang et al.   MOLECULAR GENETICS AND METABOLISM

Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model

(2010) Cornelia Brendel et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Rescue of non-sense mutated p53 tumor suppressor gene by aminoglycosides

(2010) Célia Floquet et al.   NUCLEIC ACIDS RESEARCH

Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors

(2009) Pamela Nicholson et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: An update

(2008) I. Gijselinck et al.   HUMAN MUTATION

Genetic analysis of interactions with eukaryotic rRNA identify the mitoribosome as target in aminoglycoside ototoxicity

(2008) S. N. Hobbie et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Aminoglycoside induced ototoxicity

(2008) O’neil W. Guthrie   TOXICOLOGY