A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse.
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A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-LomRegulating Axonal Responses to Injury: The Intersection between Signaling Pathways Involved in Axon Myelination and The Inhibition of Axon RegenerationNeuro-glial interactions at the nodes of Ranvier: implication in health and diseasesRetroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growthAssociation of calnexin with mutant peripheral myelin protein-22 ex vivo: a basis for "gain-of-function" ER diseasesUnmyelinated auditory type I spiral ganglion neurons in congenic Ly5.1 mice.Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.Mouse homologues of human hereditary disease.A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.Charcot-Marie-Tooth disease: lessons in genetic mechanisms.Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease.Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.P0 (protein zero) mutation S34C underlies instability of internodal myelin in S63C mice.Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis.Introduction to the Third International Symposium on Charcot-Marie-Tooth disorders.Molecular mechanisms for CMT1A duplication and HNPP deletion.The anatomy and cell biology of peripheral myelin protein-22.New vistas on the pathomechanism of Charcot-Marie-Tooth and related peripheral neuropathies.Transgenic mouse models of CMT1A and HNPP.The "CMT rat": peripheral neuropathy and dysmyelination caused by transgenic overexpression of PMP22.Trembler as a mouse model of CMT1A?Human nerve pathology caused by different mutational mechanisms of the PMP22 gene.Molecular anatomy and genetics of myelin proteins in the peripheral nervous systemDifferential aggregation of the Trembler and Trembler J mutants of peripheral myelin protein 22The PMP22 gene and its related diseases.Copy number variation upstream of PMP22 in Charcot-Marie-Tooth diseaseNerve-dependent changes in skeletal muscle myosin heavy chain after experimental denervation and cross-reinnervation and in a demyelinating mouse model of Charcot-Marie-Tooth disease type 1A.PMP22 is critical for actin-mediated cellular functions and for establishing lipid rafts.Detection of copy number variation by SNP-allelotyping.Understanding Schwann cell-neurone interactions: the key to Charcot-Marie-Tooth disease?Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.Rapamycin improves peripheral nerve myelination while it fails to benefit neuromuscular performance in neuropathic mice.Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathyRapamycin activates autophagy and improves myelination in explant cultures from neuropathic mice.Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.Animal models of Charcot-Marie-Tooth disease type 1A.Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.Depletion of molecular chaperones from the endoplasmic reticulum and fragmentation of the Golgi apparatus associated with pathogenesis in Pelizaeus-Merzbacher disease.Structural and Functional Abnormalities of the Neuromuscular Junction in the Trembler-J Homozygote Mouse Model of Congenital Hypomyelinating Neuropathy
P2860
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P2860
A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on May 1992
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
A leucine-to-proline mutation ...... otein in the trembler-J mouse.
@en
A leucine-to-proline mutation ...... otein in the trembler-J mouse.
@nl
type
label
A leucine-to-proline mutation ...... otein in the trembler-J mouse.
@en
A leucine-to-proline mutation ...... otein in the trembler-J mouse.
@nl
prefLabel
A leucine-to-proline mutation ...... otein in the trembler-J mouse.
@en
A leucine-to-proline mutation ...... otein in the trembler-J mouse.
@nl
P2093
P2860
P356
P1476
A leucine-to-proline mutation ...... otein in the trembler-J mouse.
@en
P2093
A A Welcher
A M Buchberg
E M Shooter
G J Snipes
J J Moskow
R L Sidman
P2860
P304
P356
10.1073/PNAS.89.10.4382
P407
P577
1992-05-01T00:00:00Z