The novel Cln1R151X mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy

Identification of Palmitoyl Protein Thioesterase 1 in Human THP1 Monocytes and Macrophages and Characterization of Unique Biochemical Activities for This Enzyme

(2013) Ran Wang et al.   BIOCHEMISTRY

The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis

(2013) Jake N. Miller et al.   HUMAN MOLECULAR GENETICS

A Novel c.776_777insA Mutation in CLN1 Leads to Infantile Neuronal Ceroid Lipofuscinosis

(2013) Jake N. Miller et al.   JOURNAL OF CHILD NEUROLOGY

Long-term nonsense suppression therapy moderates MPS I-H disease progression

(2013) Gwen Gunn et al.   MOLECULAR GENETICS AND METABOLISM

Location- and sex-specific differences in weight and motor coordination in two commonly used mouse strains

(2013) Attila D. Kovács et al.   Scientific Reports

Advances in the treatment of neuronal ceroid lipofuscinosis

(2013) Dolan Sondhi et al.   Expert Opinion on Orphan Drugs

Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy

(2012) Refik Kayali et al.   HUMAN MOLECULAR GENETICS

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

(2012) R. E. Williams et al.   NEUROLOGY

Pharmaceutical therapies to recode nonsense mutations in inherited diseases

(2012) Hui-Ling Rose Lee et al.   PHARMACOLOGY & THERAPEUTICS

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

(2011) Maria Kousi et al.   HUMAN MUTATION

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients

(2011) María-Socorro Pérez-Poyato et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients

(2011) Chinmoy Sarkar et al.   MOLECULAR GENETICS AND METABOLISM

N-acetylcysteine prevents loss of dopaminergic neurons in theEAAC1−/−mouse

(2010) Ari E. Berman et al.   ANNALS OF NEUROLOGY

Read-Through Strategies for Suppression of Nonsense Mutations in Duchenne/ Becker Muscular Dystrophy: Aminoglycosides and Ataluren (PTC124)

(2010) Richard S. Finkel   JOURNAL OF CHILD NEUROLOGY

Structural basis of neuronal ceroid lipofuscinosis 1

(2009) Kazuki Ohno et al.   BRAIN & DEVELOPMENT

Involvement of NMDAR2A tyrosine phosphorylation in depression-related behaviour

(2009) Sachiko Taniguchi et al.   EMBO JOURNAL

Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouse

(2009) Shannon L. Macauley et al.   EXPERIMENTAL NEUROLOGY

Variant Late Infantile Neuronal Ceroid Lipofuscinosis Because of CLN1 Mutations

(2009) Alessandro Simonati et al.   PEDIATRIC NEUROLOGY

Neuronal ceroid lipofuscinoses

(2008) Anu Jalanko et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH