Pelizaeus-Merzbacher Disease

59  relevant articles (0 outcomes, 4 trials/studies) found for this Disease

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Disease Context: Research Results

Related Diseases

1.	Paraplegia (Spastic Paraplegia)
2.	Metachromatic Leukodystrophy (Sulfatide Lipidosis)
3.	Demyelinating Diseases (Demyelinating Disease)
4.	Alagille Syndrome (Alagille-Watson Syndrome)
5.	Genetic Translocation (Chromosomal Translocation)

Experts

1.	Nave, Klaus-Armin: 2 articles (11/2007 - 04/2002)
2.	Ki, Chang Seok: 1 article (04/2008)
3.	Ki, Chang-Seok: 1 article (04/2008)
4.	Cho, Hyun-Jung: 1 article (04/2008)
5.	Baek, Hye Jin: 1 article (04/2008)
6.	Suh, Sang Il: 1 article (04/2008)
7.	Yoon, Joon Shik: 1 article (04/2008)
8.	Cho, Hyun Jung: 1 article (04/2008)
9.	Bae, Sook Young: 1 article (04/2008)
10.	Kim, Sei Joo: 1 article (04/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pelizaeus-Merzbacher Disease:

1.	Myelin Proteolipid ProteinIBA 09/01/2005 - "To study the effects of a point mutation found in Pelizaeus-Merzbacher disease (PMD) on the physicochemical and structural properties of the extracellular loop 4 of the myelin proteolipid protein (PLP), we synthesized the peptide PLP(181-230)Pro215 and one mutant PLP(181-230)Ser215 with regioselective formation of the two disulphide bridges Cys200-Cys219 and Cys183-Cys227" 09/01/2005 - "Synthesis and secondary structure of loop 4 of myelin proteolipid protein: effect of a point mutation found in Pelizaeus-Merzbacher disease." 10/01/1995 - "Pelizaeus-Merzbacher disease is a rare, sex-linked recessive, dysmyelinating disease of the central nervous system that has been associated with mutations in the myelin proteolipid protein (PLP) gene" 05/09/1995 - "A point mutation in the gene for myelin proteolipid protein (PLP) underlies oligodendrocyte death and dysmyelination in jimpy mice, an accurate model for Pelizaeus-Merzbacher disease" 01/01/1994 - "Myelin proteolipid protein mutation in the rabbit: a new model of Pelizaeus-Merzbacher disease." Order ALL the reference details at left...
2.	DNA (Deoxyribonucleic Acid)IBA 12/01/1991 - "We describe a 5-generation family of 6 individuals with Pelizaeus-Merzbacher disease, Type I. DNA linkage study was done to establish carrier status" 12/01/1991 - "Pelizaeus-Merzbacher disease: clinical and DNA-linkage study of an extended family." 03/15/1991 - "We report carrier identification and a prenatal diagnosis using DNA polymorphisms in 2 families with X-linked Pelizaeus-Merzbacher disease (PMD)" 03/15/1991 - "Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA." 01/01/1986 - "A human PLP cDNA was isolated and employed to similarly analyze DNA from four patients diagnosed as having Pelizaeus-Merzbacher disease" Order ALL the reference details at left...
3.	Biological Markers (Surrogate Marker)IBA 09/01/1994 - "Among the numerous leukodystrophies that have an early onset and no biochemical markers, Pelizaeus-Merzbacher disease (PMD) is one that can be identified using strict clinical criteria and demonstrating an abnormal formation of myelin that is restricted to the CNS in electrophysiological studies and brain magnetic resonance imaging (MRI)" Order ALL the reference details at left...
4.	Protons (Proton)IBA 04/11/2006 - "Quantitative proton MRS of Pelizaeus-Merzbacher disease: evidence of dys- and hypomyelination." 09/13/2005 - "Quantitative proton MRS of Pelizaeus-Merzbacher disease: evidence of dys- and hypomyelination." 03/01/2004 - "Pelizaeus-Merzbacher disease: diffusion MR imaging and proton MR spectroscopy findings." 09/01/2003 - "Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease." 01/22/2002 - "OBJECTIVE: To assess alterations in brain metabolites of patients with Pelizaeus-Merzbacher disease (PMD) with the proteolipid protein gene 1 (PLP1) duplications using quantitative proton MRS" Order ALL the reference details at left...
5.	Proteins (Proteins, Gene)IBA 08/01/2003 - "The accumulation of misfolded proteins in the leukodystrophy Pelizaeus-Merzbacher disease activates this stress response, resulting in apoptosis of oligodendrocytes" 04/12/2000 - "In man, mutations of these proteins cause Pelizaeus-Merzbacher disease (PMD), an X-linked dysmyelinating neuropathy" 12/01/1994 - "Despite reported sparing of the peripheral nervous system in Pelizaeus-Merzbacher disease, we suggest that proteolipid protein gene products may influence the development of anterior horn cells or peripheral nervous system myelin and that some individuals affected with this disease may present with clinical and electromyographic features suggestive of neonatal spinal muscular atrophy." 09/01/1989 - "The other variants (types III-VI), which have sometimes been categorized as Pelizaeus-Merzbacher disease, may represent mutations in genes encoding other structural myelin proteins or proteins critical to myelination." Order ALL the reference details at left...
6.	Myelin ProteinsIBA 05/01/1996 - "SPG2 shows mutations in one of the major myelin proteins, the proteolipid protein (PLP) gene, and is allelic to Pelizaeus-Merzbacher disease" 03/01/1994 - "A rare X-linked dysmyelinating disorder of the central nervous system, Pelizaeus-Merzbacher disease (PMD), has also been mapped to Xq21-q22, and is caused by mutations in the proteolipid protein gene (PLP) which encodes two myelin proteins, PLP and DM20" 09/01/1989 - "The other variants (types III-VI), which have sometimes been categorized as Pelizaeus-Merzbacher disease, may represent mutations in genes encoding other structural myelin proteins or proteins critical to myelination." Order ALL the reference details at left...
7.	Mutant Proteins (Protein, Mutant)IBA 11/14/2002 - "Herein, we demonstrate UPR activation in the leukodystrophy Pelizaeus-Merzbacher disease (PMD) as well as in three mouse models of this disease and transfected fibroblasts expressing mutant protein" 03/15/2001 - "Furthermore, on the basis of recent data we suggest that the unfolded protein response may be involved in the pathogenesis of Pelizaeus-Merzbacher disease and spastic paraplegia through a kinase signaling cascade that links the accumulation of mutant proteins in the endoplasmic reticulum of oligodendrocytes with changes in gene regulation, protein synthesis, and possibly apoptosis." Order ALL the reference details at left...
8.	Nonsense Codon (Nonsense Mutation)IBA 03/17/1997 - "We report a G-->A transition at nucleotide 431 of the proteolipid protein gene (PLP) results in a nonsense codon in a family with an unusual form of Pelizaeus-Merzbacher disease (PMD)" 03/17/1997 - "Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease." 08/22/1997 - "Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene." Order ALL the reference details at left...
9.	Complementary DNA (cDNA)IBA 03/15/1991 - "Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA." 01/01/1986 - "A human PLP cDNA was isolated and employed to similarly analyze DNA from four patients diagnosed as having Pelizaeus-Merzbacher disease" Order ALL the reference details at left...
10.	Messenger RNA (mRNA)IBA 01/01/2005 - "Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA." 10/01/1995 - "Our findings suggest that in some patients, Pelizaeus-Merzbacher disease is caused by overexpression of PLP gene transcripts, and that in these families a 50% increase of DM20 messenger RNA in females, relative to the increase in affected males, can identify a female carrier." 10/01/1995 - "Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease." Order ALL the reference details at left...

Therapies and Procedures

1.	Transplantation (Transplant Recipients) 11/01/1999 - "In this study, transplantation of glial cell progenitors into the cerebral ventricles of the embryonic myelin-deficient rat, a model of Pelizaeus-Merzbacher disease, was performed to assess the ability of these cells to incorporate into the developing brain and produce myelin" Order ALL the reference details at left...
2.	Ligation 04/01/2008 - "Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: first report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea." 07/01/2006 - "Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease." Order ALL the reference details at left...
3.	Transplants (Transplant) 09/01/2003 - "The continuing definition of pathogenetic mechanisms operative in Pelizaeus-Merzbacher disease and spastic paraplegia type 2, together with advances in neural cell transplant therapy, augurs well for future treatment of the severe forms of Pelizaeus-Merzbacher disease." Order ALL the reference details at left...