Pelizaeus-Merzbacher disease: Cellular pathogenesis and pharmacologic therapy

Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies

(2014) Yurika Numata et al.   JOURNAL OF NEUROLOGY

Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child With Static Hypomyelinating Leukodystrophy

(2014) Shawn M. Purnell et al.   PEDIATRIC NEUROLOGY

Hypomyelinating leukodystrophy-associated missense mutant of FAM126A/hyccin/DRCTNNB1A aggregates in the endoplasmic reticulum

(2013) Yuki Miyamoto et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Hematopoietic progenitors express myelin basic protein and ensheath axons in Shiverer brain

(2013) James Goolsby et al.   JOURNAL OF NEUROIMMUNOLOGY

Induced Pluripotent Stem Cell-Derived Neural Cells Survive and Mature in the Nonhuman Primate Brain

(2013) Marina E. Emborg et al.   Cell Reports

Pelizaeus–Merzbacher disease-associated proteolipid protein 1 inhibits oligodendrocyte precursor cell differentiation via extracellular-signal regulated kinase signaling

(2012) Yuki Miyamoto et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus–Merzbacher disease patient with a partial PLP1 duplication

(2012) Keiko Shimojima et al.   JOURNAL OF HUMAN GENETICS

Therapy of Pelizaeus-Merzbacher disease in mice by feeding a cholesterol-enriched diet

(2012) Gesine Saher et al.   NATURE MEDICINE

Human Neural Stem Cells Induce Functional Myelination in Mice with Severe Dysmyelination

(2012) N. Uchida et al.   Science Translational Medicine

Neural Stem Cell Engraftment and Myelination in the Human Brain

(2012) N. Gupta et al.   Science Translational Medicine

Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher-Like Disease 1, and Related Hypomyelinating Disorders

(2012) Grace Hobson et al.   SEMINARS IN NEUROLOGY

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

(2011) Geneviève Bernard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy

(2011) Hirotomo Saitsu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pathologic and Phenotypic Alterations in a Mouse Expressing a Connexin47 Missense Mutation That Causes Pelizaeus-Merzbacher–Like Disease in Humans

(2011) Oliver Tress et al.   PLoS Genetics

Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation

(2010) Miora Feinstein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PLP/DM20 Expression and turnover in a transgenic mouse model of pelizaeus-merzbacher disease

(2010) Saadia A. Karim et al.   GLIA

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus–Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications

(2009) Keiko Shimojima et al.   BRAIN & DEVELOPMENT

The role of CNS glia in preserving axon function

(2009) Julia M Edgar et al.   CURRENT OPINION IN NEUROBIOLOGY

Myelin under stress

(2009) Maurizio D'Antonio et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

(2008) Daniella Magen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease

(2008) Tetsuya Kibe et al.   BRAIN & DEVELOPMENT

Transplanted neural stem/progenitor cells generate myelinating oligodendrocytes and Schwann cells in spinal cord demyelination and dysmyelination

(2008) Andrea J. Mothe et al.   EXPERIMENTAL NEUROLOGY

JNK signaling in apoptosis

(2008) D N Dhanasekaran et al.   ONCOGENE