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2022 8
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39 results

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Page 1
Hereditary neuropathy.
Pisciotta C, Shy ME. Pisciotta C, et al. Handb Clin Neurol. 2023;195:609-617. doi: 10.1016/B978-0-323-98818-6.00009-1. Handb Clin Neurol. 2023. PMID: 37562889 Review.
The majority of patients still have a mutation in one the four most common genes (PMP22 duplication-CMT1A, MPZ-CMT1B, GJB1-CMTX1, and MFN2-CMT2A). This chapter focuses primarily on these four forms and their potential therapeutic approaches....
The majority of patients still have a mutation in one the four most common genes (PMP22 duplication-CMT1A, MPZ-CMT1B, GJB1-CMTX1, and …
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.
Bertini A, Gentile L, Cavallaro T, Tozza S, Saveri P, Russo M, Massucco S, Falzone YM, Bellone E, Taioli F, Geroldi A, Occhipinti G, Ferrarini M, Cavalca E, Crivellari L, Mandich P, Balistreri F, Magri S, Taroni F, Previtali SC, Schenone A, Grandis M, Manganelli F, Fabrizi GM, Mazzeo A, Pareyson D, Pisciotta C. Bertini A, et al. J Neurol Neurosurg Psychiatry. 2024 Dec 16;96(1):47-53. doi: 10.1136/jnnp-2024-333842. J Neurol Neurosurg Psychiatry. 2024. PMID: 38839277 Free PMC article.
BACKGROUND: We aimed to investigate the clinical features of a large cohort of patients with myelin protein zero (MPZ)-related neuropathy, focusing on the five main mutation clusters across Italy. ...Our findings corroborate the importance of different …
BACKGROUND: We aimed to investigate the clinical features of a large cohort of patients with myelin protein zero (MP …
Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease.
Pisciotta C, Pareyson D. Pisciotta C, et al. Neuromuscul Disord. 2023 Aug;33(8):627-635. doi: 10.1016/j.nmd.2023.07.001. Epub 2023 Jul 4. Neuromuscul Disord. 2023. PMID: 37455204 Review.
Modulation of the neuregulin pathway determining myelin thickness is promising for both hypo-demyelinating and hypermyelinating neuropathies; intervention on Unfolded Protein Response seems effective for rescuing misfolded myelin proteins such as MPZ in CMT1B. HDAC6 inhibi …
Modulation of the neuregulin pathway determining myelin thickness is promising for both hypo-demyelinating and hypermyelinating neuropathies …
A Role of Inflammation in Charcot-Marie-Tooth Disorders-In a Perspective of Treatment?
Kamińska J, Kochański A. Kamińska J, et al. Int J Mol Sci. 2024 Dec 24;26(1):15. doi: 10.3390/ijms26010015. Int J Mol Sci. 2024. PMID: 39795872 Free PMC article. Review.
We narrowed a group of more than 100 genes whose mutations were found in CMT-affected patients to the seven most common (MPZ, PMP22, GJB1, SEPT9, LITAF, FIG4, and GDAP1) as being linked to the coexistence of hereditary and inflammatory neuropathy. ...
We narrowed a group of more than 100 genes whose mutations were found in CMT-affected patients to the seven most common (MPZ, PMP22, …
A dose escalation and safety study of AAVrh10-mediated Schwann cell-targeted gene therapy for CMT1X.
Christou M, Sargiannidou I, Papacharalambous R, Richter J, Tryfonos C, Christodoulou C, Kagiava A, Kleopa KA. Christou M, et al. Neurotherapeutics. 2025 Apr;22(3):e00568. doi: 10.1016/j.neurot.2025.e00568. Epub 2025 Mar 6. Neurotherapeutics. 2025. PMID: 40055046 Free PMC article.
We have developed a gene replacement therapeutic approach using a humanized AAVrh10 vector construct expressing GJB1 under the control of the Schwann cell-specific human myelin protein zero (MPZ) promoter. Lumbar intrathecal injection of increasing AAV …
We have developed a gene replacement therapeutic approach using a humanized AAVrh10 vector construct expressing GJB1 under the control of th …
Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
Bremer J, Meinhardt A, Katona I, Senderek J, Kämmerer-Gassler EK, Roos A, Ferbert A, Schröder JM, Nikolin S, Nolte K, Sellhaus B, Popzhelyazkova K, Tacke F, Schara-Schmidt U, Neuen-Jacob E, de Groote CC, de Jonghe P, Timmerman V, Baets J, Weis J. Bremer J, et al. Brain Pathol. 2024 Jan;34(1):e13200. doi: 10.1111/bpa.13200. Epub 2023 Aug 15. Brain Pathol. 2024. PMID: 37581289 Free PMC article.
Myelin protein zero (MPZ/P0) is a major structural protein of peripheral nerve myelin. ...The autopsy case offers insight into spinal nerve root pathology in MPZ neuropathy. Finally, our data suggest a peculiar association of MPZ mutation …
Myelin protein zero (MPZ/P0) is a major structural protein of peripheral nerve myelin. ...The autopsy case offer …
Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.
Yalcouyé A, Esoh K, Guida L, Wonkam A. Yalcouyé A, et al. J Peripher Nerv Syst. 2022 Jun;27(2):100-112. doi: 10.1111/jns.12489. Epub 2022 Apr 5. J Peripher Nerv Syst. 2022. PMID: 35383421 Free PMC article.
CMT-associated variants were reported in 11 genes: LMNA, GDAP1, GJB1, MPZ, MTMR13, MTMR2, PRX, FGD4/FRABIN, PMP22, SH3TC2, and GARS. The most common genes reported are LMNA, GDAP1, and SH3TC2 and have been found mostly in Northern African populations. ...
CMT-associated variants were reported in 11 genes: LMNA, GDAP1, GJB1, MPZ, MTMR13, MTMR2, PRX, FGD4/FRABIN, PMP22, SH3TC2, and GARS. …
Complete Loss of Myelin protein zero (MPZ) in a patient with a late onset Charcot-Marie-Tooth (CMT).
Gharesouran J, Hosseinzadeh H, Naghiloo A, Ghafouri-Fard S, Hussen BM, Taheri M, Rezazadeh M, Samadian M. Gharesouran J, et al. Metab Brain Dis. 2023 Aug;38(6):1963-1970. doi: 10.1007/s11011-023-01201-x. Epub 2023 Mar 23. Metab Brain Dis. 2023. PMID: 36952089
One of the important genes which cause 5% of all CMT cases is Myelin protein zero (P0, MPZ). Variants in this gene have been reported in association with different forms of CMT including classical CMT1, severe DSS (CMT3B), DI-CMT, CMT2I and CMT2J with …
One of the important genes which cause 5% of all CMT cases is Myelin protein zero (P0, MPZ). Variants in this ge …
Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease.
Ptak CP, Peterson TA, Hopkins JB, Ahern CA, Shy ME, Piper RC. Ptak CP, et al. Brain. 2023 Dec 1;146(12):5110-5123. doi: 10.1093/brain/awad258. Brain. 2023. PMID: 37542466 Free PMC article.
Mutations in MPZ (myelin protein zero) can cause demyelinating early-onset Charcot-Marie-Tooth type 1B disease or later onset type 2I/J disease characterized by axonal degeneration, reflecting the diverse roles of MPZ in Schwann cells. MPZ …
Mutations in MPZ (myelin protein zero) can cause demyelinating early-onset Charcot-Marie-Tooth type 1B disease o …
Gene expression profiling of extraocular muscles in primary inferior oblique overaction.
Hao R, Wang Y, Zhang W. Hao R, et al. PeerJ. 2025 May 28;13:e19474. doi: 10.7717/peerj.19474. eCollection 2025. PeerJ. 2025. PMID: 40452936 Free PMC article.
Analysis of DEGs revealed that upregulated genes in the primary group were associated with myelination (e.g., MBP, MPZ, PRX) and ion channels (e.g., KCNA5, KCNE5). Conversely, downregulated genes were primarily related to ion channels (e.g., CACNA1B, SCN3B, SCN5A, KCNJ3), …
Analysis of DEGs revealed that upregulated genes in the primary group were associated with myelination (e.g., MBP, MPZ, PRX) and ion …
39 results