Human iNSC-derived brain organoid model of lysosomal storage disorder in Niemann–Pick disease type C

Correction of Niemann-Pick type C1 trafficking and activity with the histone deacetylase inhibitor valproic acid

(2020) Kanagaraj Subramanian et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Modeling G2019S-LRRK2 Sporadic Parkinson's Disease in 3D Midbrain Organoids

(2019) Hongwon Kim et al.   Stem Cell Reports

NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress

(2019) D. Höglinger et al.   Nature Communications

Single-Factor SOX2 Mediates Direct Neural Reprogramming of Human Mesenchymal Stem Cells via Transfection of In Vitro Transcribed mRNA

(2018) Bo-Eun Kim et al.   CELL TRANSPLANTATION

APOE4 Causes Widespread Molecular and Cellular Alterations Associated with Alzheimer’s Disease Phenotypes in Human iPSC-Derived Brain Cell Types

(2018) Yuan-Ta Lin et al.   NEURON

Consensus clinical management guidelines for Niemann-Pick disease type C

(2018) Tarekegn Geberhiwot et al.   Orphanet Journal of Rare Diseases

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

(2017) Daniel S Ory et al.   LANCET

The use of brain organoids to investigate neural development and disease

(2017) Elizabeth Di Lullo et al.   NATURE REVIEWS NEUROSCIENCE

Generation of patient specific human neural stem cells from Niemann-Pick disease type C patient-derived fibroblasts

(2017) Eun-Ah Sung et al.   Oncotarget

Visualization of a short-range Wnt gradient in the intestinal stem-cell niche

(2016) Henner F. Farin et al.   NATURE

Erratum: Kidney organoids from human iPS cells contain multiple lineages and model human nephrogenesis

(2016) Minoru Takasato et al.   NATURE

Retinal Organoids from Pluripotent Stem Cells Efficiently Recapitulate Retinogenesis

(2016) Manuela Völkner et al.   Stem Cell Reports

Self-Organizing 3D Human Neural Tissue Derived from Induced Pluripotent Stem Cells Recapitulate Alzheimer’s Disease Phenotypes

(2016) Waseem K. Raja et al.   PLoS One

Rapid and Efficient Direct Conversion of Human Adult Somatic Cells into Neural Stem Cells by HMGA2/let-7b

(2015) Kyung-Rok Yu et al.   Cell Reports

Neural progenitors, neurogenesis and the evolution of the neocortex

(2014) M. Florio et al.   DEVELOPMENT

Generation of cerebral organoids from human pluripotent stem cells

(2014) Madeline A Lancaster et al.   Nature Protocols

Organogenesis in a dish: Modeling development and disease using organoid technologies

(2014) M. A. Lancaster et al.   SCIENCE

Cerebral organoids model human brain development and microcephaly

(2013) Madeline A. Lancaster et al.   NATURE

Toward a 3D model of human brain development for studying gene/environment interactions

(2013) Helena T Hogberg et al.   Stem Cell Research & Therapy

Autophagy in lysosomal storage disorders

(2012) Andrew P. Lieberman et al.   Autophagy

Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts

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

Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches

(2010) Anton I. Rosenbaum et al.   JOURNAL OF NEUROCHEMISTRY

Niemann-Pick C1 Functions Independently of Niemann-Pick C2 in the Initial Stage of Retrograde Transport of Membrane-impermeable Lysosomal Cargo

(2009) Stephen D. B. Goldman et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Niemann-Pick C1 Functions in Regulating Lysosomal Amine Content

(2008) Allyn M. Kaufmann et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Niemann-Pick Type C1 I1061T Mutant Encodes a Functional Protein That Is Selected for Endoplasmic Reticulum-associated Degradation Due to Protein Misfolding

(2008) Mark E. Gelsthorpe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY