Severe Neurodegeneration with Impaired Autophagy Mechanism Triggered by Ostm1 Deficiency

Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1

(2013) Claus-Eric Ott et al.   BONE

The role of autophagy in neurodegenerative disease

(2013) Ralph A Nixon   NATURE MEDICINE

Osteopetrosis: genetics, treatment and new insights into osteoclast function

(2013) Cristina Sobacchi et al.   Nature Reviews Endocrinology

Axonal transport deficits and neurodegenerative diseases

(2013) Stéphanie Millecamps et al.   NATURE REVIEWS NEUROSCIENCE

Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

(2012) Frances M. Platt et al.   JOURNAL OF CELL BIOLOGY

ClC-7 is a slowly voltage-gated 2Cl−/1H+-exchanger and requires Ostm1 for transport activity

(2011) Lilia Leisle et al.   EMBO JOURNAL

Lysosomal Proteolysis Inhibition Selectively Disrupts Axonal Transport of Degradative Organelles and Causes an Alzheimer's-Like Axonal Dystrophy

(2011) S. Lee et al.   JOURNAL OF NEUROSCIENCE

Distinct Neuropathologic Phenotypes After Disrupting the Chloride Transport Proteins ClC-6 or ClC-7/Ostm1

(2010) Sarah N.R. Pressey et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Fate Mapping Analysis Reveals That Adult Microglia Derive from Primitive Macrophages

(2010) F. Ginhoux et al.   SCIENCE

A single-center experience in 20 patients with infantile malignant osteopetrosis

(2009) Evelina Mazzolari et al.   AMERICAN JOURNAL OF HEMATOLOGY

Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7

(2009) Lena Wartosch et al.   FASEB JOURNAL

Autophagy in the Pathogenesis of Disease

(2008) Beth Levine et al.   CELL

Astroglia in dementia and Alzheimer's disease

(2008) J J Rodríguez et al.   CELL DEATH AND DIFFERENTIATION

Brain lipid composition in grey-lethal mutant mouse characterized by severe malignant osteopetrosis

(2008) Alessandro Prinetti et al.   GLYCOCONJUGATE JOURNAL

OSTM1 Bone Defect Reveals an Intercellular Hematopoietic Crosstalk

(2008) Monica Pata et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Motor Neuron Disease Occurring in a Mutant Dynactin Mouse Model Is Characterized by Defects in Vesicular Trafficking

(2008) F. M. Laird et al.   JOURNAL OF NEUROSCIENCE

Nrf2 Activation in Astrocytes Protects against Neurodegeneration in Mouse Models of Familial Amyotrophic Lateral Sclerosis

(2008) M. R. Vargas et al.   JOURNAL OF NEUROSCIENCE

Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis

(2008) Koji Yamanaka et al.   NATURE NEUROSCIENCE