Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease

Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies

(2021) Sofia B. Lizarraga et al.   Science Translational Medicine

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

(2019) Emily Gardner et al.   HUMAN MUTATION

Splicing mutations in human genetic disorders: examples, detection, and confirmation

(2018) Abramowicz Anna et al.   JOURNAL OF APPLIED GENETICS

Molecular basis of CLN2 disease: A review and classification of TPP1 gene variants reported worldwide

(2018) Sara E. Mole et al.   MOLECULAR GENETICS AND METABOLISM

Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses

(2018) Ni Sima et al.   Orphanet Journal of Rare Diseases

Genetically unmatched human iPSC and ESC exhibit equivalent gene expression and neuronal differentiation potential

(2017) Hany E. Marei et al.   Scientific Reports

Modeling developmental neuropsychiatric disorders with iPSC technology: challenges and opportunities

(2016) Tracy L Young-Pearse et al.   CURRENT OPINION IN NEUROBIOLOGY

A simple method for differentiation of H9 cells into neuroectoderm

(2015) Annuo Liu et al.   TISSUE & CELL

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

(2013) Xenia Lojewski et al.   HUMAN MOLECULAR GENETICS

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

Distinct Early Molecular Responses to Mutations Causing vLINCL and JNCL Presage ATP Synthase Subunit C Accumulation in Cerebellar Cells

(2011) Yi Cao et al.   PLoS One

A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement

(2011) Sofie Symoens et al.   PLoS One

Towards understanding the neuronal ceroid lipofuscinoses

(2009) Alfried Kohlschütter et al.   BRAIN & DEVELOPMENT

The pathobiology of splicing

(2009) Amanda J Ward et al.   JOURNAL OF PATHOLOGY

Neuronal ceroid lipofuscinoses

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

Structure of Tripeptidyl-peptidase I Provides Insight into the Molecular Basis of Late Infantile Neuronal Ceroid Lipofuscinosis

(2008) Aritra Pal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Differentiation of Human Embryonic Stem Cells to Regional Specific Neural Precursors in Chemically Defined Medium Conditions

(2008) Slaven Erceg et al.   PLoS One