HPGCD Outperforms HPBCD as a Potential Treatment for Niemann-Pick Disease Type C During Disease Modeling with iPS Cells

Pluripotent Stem Cell Models of Shwachman-Diamond Syndrome Reveal a Common Mechanism for Pancreatic and Hematopoietic Dysfunction

(2013) Asmin Tulpule et al.   Cell Stem Cell

Modeling Alzheimer’s Disease with iPSCs Reveals Stress Phenotypes Associated with Intracellular Aβ and Differential Drug Responsiveness

(2013) Takayuki Kondo et al.   Cell Stem Cell

Cyclodextrin alleviates neuronal storage of cholesterol in Niemann-Pick C disease without evidence of detectable blood–brain barrier permeability

(2013) Charles C. Pontikis et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Efficient and Reproducible Myogenic Differentiation from Human iPS Cells: Prospects for Modeling Miyoshi Myopathy In Vitro

(2013) Akihito Tanaka et al.   PLoS One

Autophagy in lysosomal storage disorders

(2012) Andrew P. Lieberman et al.   Autophagy

Microarray expression analysis and identification of serum biomarkers for Niemann–Pick disease, type C1

(2012) Celine V.M. Cluzeau et al.   HUMAN MOLECULAR GENETICS

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

(2012) Bénédicte Héron et al.   Orphanet Journal of Rare Diseases

Pathogenic Mutation of ALK2 Inhibits Induced Pluripotent Stem Cell Reprogramming and Maintenance: Mechanisms of Reprogramming and Strategy for Drug Identification

(2012) Makoto Hamasaki et al.   STEM CELLS

Targeted Gene Correction of Laminopathy-Associated LMNA Mutations in Patient-Specific iPSCs

(2011) Guang-Hui Liu et al.   Cell Stem Cell

Targeted gene correction of α1-antitrypsin deficiency in induced pluripotent stem cells

(2011) Kosuke Yusa et al.   NATURE

Efficient generation of transgene-free human induced pluripotent stem cells (iPSCs) by temperature-sensitive Sendai virus vectors

(2011) H. Ban et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Abnormal gene expression in cerebellum of Npc1−/− mice during postnatal development

(2010) Guanghong Liao et al.   BRAIN RESEARCH

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

(2010) Maria C.N. Marchetto et al.   CELL

Generation of Induced Pluripotent Stem Cells from Human Terminally Differentiated Circulating T Cells

(2010) Tomohisa Seki et al.   Cell Stem Cell

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Weekly Cyclodextrin Administration Normalizes Cholesterol Metabolism in Nearly Every Organ of the Niemann-Pick Type C1 Mouse and Markedly Prolongs Life

(2010) Charina M Ramirez et al.   PEDIATRIC RESEARCH

Endocytosis of beta-cyclodextrins is responsible for cholesterol reduction in Niemann-Pick type C mutant cells

(2010) A. I. Rosenbaum et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recommendations on the diagnosis and management of Niemann-Pick disease type C

(2009) James E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression

(2009) Cristin D. Davidson et al.   PLoS One

Efficient induction of transgene-free human pluripotent stem cells using a vector based on Sendai virus, an RNA virus that does not integrate into the host genome

(2009) Noemi FUSAKI et al.   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES

Induced pluripotent stem cells from a spinal muscular atrophy patient

(2008) Allison D. Ebert et al.   NATURE