Animal models of inherited neuropathies

Hörste, Gerd Meyer zu; Nave, Klaus‐Armin

doi:10.1097/01.wco.0000245369.44199.27

Cited by 47 publications

(26 citation statements)

References 131 publications

(94 reference statements)

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“…As indicated by transgenic models of PMP22 overexpression and absence, HNPP results from haploinsufficiency, while CMT1A results from a moderate 2-fold increase in expression; greater than 2-fold overexpression results in DSS. This genotype-phenotype correlation, along with the observation of PMP22-containing protein aggregates in Tr-J mice, supports a mechanism of perturbed intracellular trafficking [76].…”

Section: Models Of Human Diseasesupporting

confidence: 67%

Mouse Forward Genetics in the Study of the Peripheral Nervous System and Human Peripheral Neuropathy

Douglas

Popko

2008

Neurochem Res

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Forward genetics, the phenotype-driven approach to investigating gene identity and function, has a long history in mouse genetics. Random mutations in the mouse transcend bias about gene function and provide avenues towards unique discoveries. The study of the peripheral nervous system is no exception; from historical strains such as the trembler mouse, which led to the identification of PMP22 as a human disease gene causing multiple forms of peripheral neuropathy, to the more recent identification of the claw paw and sprawling mutations, forward genetics has long been a tool for probing the physiology, pathogenesis, and genetics of the PNS. Even as spontaneous and mutagenized mice continue to enable the identification of novel genes, provide allelic series for detailed functional studies, and generate models useful for clinical research, new methods, such as the piggyBac transposon, are being developed to further harness the power of forward genetics.

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Section: Models Of Human Diseasesupporting

confidence: 67%

Mouse Forward Genetics in the Study of the Peripheral Nervous System and Human Peripheral Neuropathy

Douglas

Popko

2008

Neurochem Res

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“…Functional and structural studies could then focus on these areas, with a histological study to confirm the abnormal architecture suggested by the diffusion imaging. Interestingly, several animal models of CMT1A and HNPP have been developed but their CNS has not yet been explored 25. These models might potentially provide insight into the role of PMP22 in the CNS.…”

Section: Discussionmentioning

confidence: 99%

Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study

Chanson

Echaniz‐Laguna

Blanc

et al. 2012

Journal of Neurology, Neurosurgery & Psychiatry

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“…Animal models for the most common subtypes of human CMT disease are now available. They provide clues for understanding the pathogenesis of CMT; they also help to reveal possible treatment strategies for inherited neuropathies [42 ]. The first two therapeutic approaches explained below are nonspecific and directed toward regulating the overall program of myelination.…”

Section: Treatmentmentioning

confidence: 99%

Hereditary neuropathies

Parman

2007

Current Opinion in Neurology

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Rapid advances in the molecular genetics and cell biology of hereditary neuropathies have highlighted the great genetic complexity of Charcot-Marie-Tooth disease. The evolution from a simple clinical classification to a complex molecular one has not facilitated our understanding of the disease. Moreover, the new molecular classification is not simple to use as different mutations of the same gene produce a range of phenotypes. The clinicians have to look for specific clinical and electrophysiological clues to direct the patient to appropriate genetic testing.

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Animal models of inherited neuropathies

Abstract: Animal models have opened up new perspectives on the pathomechanisms and possible treatment strategies of inherited neuropathies.

Cited by 47 publications

References 131 publications

Mouse Forward Genetics in the Study of the Peripheral Nervous System and Human Peripheral Neuropathy

Mouse Forward Genetics in the Study of the Peripheral Nervous System and Human Peripheral Neuropathy

Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study

Hereditary neuropathies

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