CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity

CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity

Silvana Guerriero,1 Francesco D’Oria,1 Giacomo Rossetti,2 Rosa Anna Favale,1 Stefano Zoccolella,1 Giovanni Alessio,1 Vittoria Petruzzella1 1Department of Medical Science, Neuroscience and Sense Organs, University of Bari Aldo Moro, Bari, Italy; 2Department of Molecular Biology, University...

Full description

Bibliographic Details
Main Authors:	Guerriero S, D'Oria F, Rossetti G, Favale RA, Zoccolella S, Alessio G, Petruzzella V
Format:	Article
Language:	English
Published:	Dove Medical Press 2020-02-01
Series:	International Medical Case Reports Journal
Subjects:	charcot-marie-tooth type 2a mitofusin2 optic atrophy mitochondria visual field.
Online Access:	https://www.dovepress.com/cmt2a-harboring-mitofusin-2-mutation-with-optic-nerve-atrophy-and-norm-peer-reviewed-article-IMCRJ

Similar Items

Autophagy and proliferation are dysregulated in Charcot-Marie-Tooth disease type 2A cells harboring MFN2 (mitofusin 2) mutation
by: Paola Zanfardino, et al.
Published: (2022-12-01)

Piperine Derivatives Enhance Fusion and Axonal Transport of Mitochondria by Activating Mitofusins
by: Lihong Zhang, et al.
Published: (2022-06-01)

Mitochondria Clumping vs. Mitochondria Fusion in CMT2A Diseases
by: Antonietta Franco, et al.
Published: (2022-12-01)

Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A
by: Antonietta Franco, et al.
Published: (2020-10-01)

The role of Mitofusin-1 and Mitofusin-2 in periodontal disease: a comprehensive review
by: Sudhir R. Varma, et al.
Published: (2025-01-01)

A Novel ENU-Induced <i>Mfn2</i> Mutation Causes Motor Deficits in Mice without Causing Peripheral Neuropathy
by: Timothy J. Hines, et al.
Published: (2023-07-01)

The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort
by: Yan Ma, et al.
Published: (2021-10-01)

Mitofusin2 expression is associated with podocyte injury in IgA nephropathy
by: Xuanli Tang, et al.
Published: (2023-03-01)

Mitofusin 2, a key coordinator between mitochondrial dynamics and innate immunity
by: In Soo Kim, et al.
Published: (2021-12-01)

Mitofusin-2 acts as biomarker for predicting poor prognosis in hepatitis B virus related hepatocellular carcinoma
by: Xiumei Wang, et al.
Published: (2018-11-01)

Mitofusin 2 Dysfunction and Disease in Mice and Men
by: Gerald W. Dorn
Published: (2020-07-01)

Role of Mitofusins and Mitophagy in Life or Death Decisions
by: Mariana Joaquim, et al.
Published: (2020-09-01)

A novel IGHMBP2 variant and clinical diversity in Vietnamese SMARD1 and CMT2S patients
by: Van Khanh Tran, et al.
Published: (2024-02-01)

A human mitofusin 2 mutation can cause mitophagic cardiomyopathy
by: Antonietta Franco, et al.
Published: (2023-11-01)

Report of a Patient with Multiple Mutations Leading to Charcot-Marie-Tooth Disease and Distal Spinal Muscular Atrophy: A Case Report
by: Atefeh MEHRABI, et al.
Published: (2020-03-01)

Case report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian family
by: C. Vinciguerra, et al.
Published: (2023-07-01)

Proteasome Inhibitors Decrease the Viability of Pulmonary Arterial Smooth Muscle Cells by Restoring Mitofusin-2 Expression under Hypoxic Conditions
by: I-Chen Chen, et al.
Published: (2022-04-01)

Acetate ameliorates ovarian mitochondrial dysfunction in letrozole-induced polycystic ovarian syndrome rat model by improving mitofusin-2
by: Kehinde S. Olaniyi, et al.
Published: (2024-04-01)

Mitofusin 2 Exerts a Protective Role in Ischemia Reperfusion Injury Through Increasing Autophagy
by: Cheng Peng, et al.
Published: (2018-05-01)

Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation
by: Xiawei Dang, et al.
Published: (2022-03-01)

An 8-month adapted motor activity program in a young CMT1A male patient
by: Giorgio Bottoni, et al.
Published: (2024-04-01)

Mitofusin2, as a Protective Target in the Liver, Controls the Balance of Apoptosis and Autophagy in Acute-on-Chronic Liver Failure
by: Ran Xue, et al.
Published: (2019-05-01)

Rate of Changes in CMT Neuropathy and Examination Scores in Japanese Adult CMT1A Patients
by: Fukiko Kitani-Morii, et al.
Published: (2020-07-01)

A case report of peroneal muscle atrophy type 2A2 with central nervous system involvement as initial presentation
by: Xin Xu, et al.
Published: (2024-01-01)

Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review
by: Yuan Tian, et al.
Published: (2023-11-01)

Reciprocal Regulation of Mitofusin 2-Mediated Mitophagy and Mitochondrial Fusion by Different PINK1 Phosphorylation Events
by: Jiajia Li, et al.
Published: (2022-05-01)

Characterization of genotype–phenotype correlation with MORC2 mutated Axonal Charcot–Marie–Tooth disease in a cohort of Chinese patients
by: Xiaohui Duan, et al.
Published: (2021-05-01)

Mitofusins: Disease Gatekeepers and Hubs in Mitochondrial Quality Control by E3 Ligases
by: Mafalda Escobar-Henriques, et al.
Published: (2019-05-01)

Niacin‐mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination
by: Alessandra Bolino, et al.
Published: (2016-10-01)

Role of Mitofusin-2 in High Mobility Group Box-1 Protein-Mediated Apoptosis of T Cells in Vitro
by: Zong-sheng Wu, et al.
Published: (2014-03-01)

Hypertonia-linked protein Trak1 functions with mitofusins to promote mitochondrial tethering and fusion
by: Crystal A. Lee, et al.
Published: (2017-09-01)

Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A
by: Katy Eichinger, et al.
Published: (2022-06-01)

Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7<sup>K126R</sup> Mutation
by: Roberta Romano, et al.
Published: (2022-01-01)

CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila
by: Biljana Ermanoska, et al.
Published: (2014-08-01)

A Novel Family with Demyelinating Charcot–Marie–Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature
by: Margherita Baga, et al.
Published: (2023-05-01)

A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot‐Marie‐Tooth disease 2
by: Ding‐Wen Wu, et al.
Published: (2020-09-01)

A mouse model of human mitofusin-2-related lipodystrophy exhibits adipose-specific mitochondrial stress and reduced leptin secretion
by: Jake P Mann, et al.
Published: (2023-02-01)

Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth
by: Xin Zhao, et al.
Published: (2018-01-01)

Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy
by: Hui Jiang, et al.
Published: (2021-03-01)

Mitofusin 2 in Macrophages Links Mitochondrial ROS Production, Cytokine Release, Phagocytosis, Autophagy, and Bactericidal Activity
by: Juan Tur, et al.
Published: (2020-08-01)