Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease

Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C

(2016) A. Dardis et al.   Acta Neuropathologica Communications

Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development

(2015) David Cunningham et al.   HUMAN MOLECULAR GENETICS

Identification of a Family of Fatty-Acid-Speciated Sonic Hedgehog Proteins, Whose Members Display Differential Biological Properties

(2015) Jun Long et al.   Cell Reports

The kinesin-4 protein Kif7 regulates mammalian Hedgehog signalling by organizing the cilium tip compartment

(2014) Mu He et al.   NATURE CELL BIOLOGY

The autophagic defect in Niemann–Pick disease type C neurons differs from somatic cells and reduces neuronal viability

(2014) Volker Meske et al.   NEUROBIOLOGY OF DISEASE

A marked paucity of granule cells in the developing cerebellum of the Npc1−/− mouse is corrected by a single injection of hydroxypropyl-β-cyclodextrin

(2014) S. Nusca et al.   NEUROBIOLOGY OF DISEASE

Primary Cilia in the Developing and Mature Brain

(2014) Alicia Guemez-Gamboa et al.   NEURON

Olfactory Deficits in Niemann-Pick Type C1 (NPC1) Disease

(2014) Marina Hovakimyan et al.   PLoS One

Ciliopathy Is Differentially Distributed in the Brain of a Bardet-Biedl Syndrome Mouse Model

(2014) Khristofor Agassandian et al.   PLoS One

Hedgehog Pathway Modulation by Multiple Lipid Binding Sites on the Smoothened Effector of Signal Response

(2013) Benjamin R. Myers et al.   DEVELOPMENTAL CELL

Multiple TSC22D4 iso-/phospho-glycoforms display idiosyncratic subcellular localizations and interacting protein partners

(2013) Sonia Canterini et al.   FEBS Journal

Titration of GLI3 Repressor Activity by Sonic Hedgehog Signaling Is Critical for Maintaining Multiple Adult Neural Stem Cell and Astrocyte Functions

(2013) R. Petrova et al.   JOURNAL OF NEUROSCIENCE

Arborization of Dendrites by Developing Neocortical Neurons Is Dependent on Primary Cilia and Type 3 Adenylyl Cyclase

(2013) S. M. Guadiana et al.   JOURNAL OF NEUROSCIENCE

Functional interaction between autophagy and ciliogenesis

(2013) Olatz Pampliega et al.   NATURE

Oxysterol binding to the extracellular domain of Smoothened in Hedgehog signaling

(2013) Daniel Nedelcu et al.   Nature Chemical Biology

Cholesterol Biosynthesis and Homeostasis in Regulation of the Cell Cycle

(2013) Pushpendra Singh et al.   PLoS One

Impaired Autophagy in the Lipid-Storage Disorder Niemann-Pick Type C1 Disease

(2013) Sovan Sarkar et al.   Cell Reports

Subcellular Distribution of Patched and Smoothened in the Cerebellar Neurons

(2012) Ronald S. Petralia et al.   CEREBELLUM

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

(2012) A. Aguilar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Protein kinase A acts at the basal body of the primary cilium to prevent Gli2 activation and ventralization of the mouse neural tube

(2011) M. Tuson et al.   DEVELOPMENT

Primary cilia and Gli3 activity regulate cerebral cortical size

(2011) Sandra L. Wilson et al.   Developmental Neurobiology

Subcellular localization of patched and smoothened, the receptors for sonic hedgehog signaling, in the hippocampal neuron

(2011) Ronald S. Petralia et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Development and distribution of neuronal cilia in mouse neocortex

(2011) Jon I. Arellano et al.   JOURNAL OF COMPARATIVE NEUROLOGY

The Hedgehog Receptor Patched Is Involved in Cholesterol Transport

(2011) Michel Bidet et al.   PLoS One

Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding

(2011) M. S. Deffieu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Expression of Sonic Hedgehog During Cell Proliferation in the Human Cerebellum

(2011) Parthiv Haldipur et al.   STEM CELLS AND DEVELOPMENT

Role of Lipid Metabolism in Smoothened Derepression in Hedgehog Signaling

(2010) Amir Yavari et al.   DEVELOPMENTAL CELL

The primary cilium: a signalling centre during vertebrate development

(2010) Sarah C. Goetz et al.   NATURE REVIEWS GENETICS

Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

(2009) Hyock Joo Kwon et al.   CELL

SHH Pathway and Cerebellar Development

(2009) Catherine Vaillant et al.   CEREBELLUM

Flagellar membrane localization via association with lipid rafts

(2009) K. M. Tyler et al.   JOURNAL OF CELL SCIENCE

Lack of Niemann–Pick type C1 induces age-related degeneration in the mouse retina

(2009) Thomas Claudepierre et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling

(2009) K. F. Liem et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse

(2009) B. Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gli3 coordinates three-dimensional patterning and growth of the tectum and cerebellum by integrating Shh and Fgf8 signaling

(2008) S. Blaess et al.   DEVELOPMENT

Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool

(2008) N. Spassky et al.   DEVELOPMENTAL BIOLOGY

Hedgehog Signaling in Development and Cancer

(2008) Jin Jiang et al.   DEVELOPMENTAL CELL

NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes

(2008) R. E. Infante et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA