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Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

American journal of human genetics, 2023-07, Vol.110 (7), p.1098-1109

2023

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Spasmodic Dysphonia in a Patient with Spinocerebellar Ataxia Associated with a Rare AFG3L2 Variant (ATX‐AFG3L2)

Movement disorders clinical practice (Hoboken, N.J.), 2023-06, Vol.10 (6), p.1024-1026

2023

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Regulation of mitochondrial proteostasis by the proton gradient

The EMBO journal, 2022-08, Vol.41 (16), p.e110476-n/a

2022

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Prohibitin 1 regulates mtDNA release and downstream inflammatory responses

The EMBO journal, 2022-12, Vol.41 (24), p.e111173-n/a

2022

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Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing

American journal of ophthalmology case reports, 2023-06, Vol.30, p.101825, Article 101825

2023

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Netrin‐1 attenuates cerebral ischemia/reperfusion injury by limiting mitochondrial ROS and Ca2+ levels via activation of AKT phosphorylation and mitochondrial m‐AAA protease AFG3L2

The FASEB journal, 2023-03, Vol.37 (3), p.e22805-n/a

2023

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Dual regulation of SLC25A39 by AFG3L2 and iron controls mitochondrial glutathione homeostasis

Molecular cell, 2024-02, Vol.84 (4), p.802-810.e6

2024

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Mitochondrial protein synthesis quality control

Human molecular genetics, 2024-05, Vol.33 (R1), p.R53-R60

2024

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Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation

Human mutation, 2018-12, Vol.39 (12), p.2060-2071

2018

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Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders

Molecular neurobiology, 2024-07, Vol.61 (7), p.3788-3808

2024

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Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia

Journal of the neurological sciences, 2021-09, Vol.428, p.117600-117600, Article 117600

2021

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Novel compound heterozygous mutations in the AFG3L2 gene in a Chinese child with microcephaly, early-onset seizures, and cerebral atrophy

Heliyon, 2023-04, Vol.9 (4), p.e14766-e14766, Article e14766

2023

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AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients

Cerebellum (London, England), 2023-12, Vol.22 (6), p.1313-1319

2023

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Loss of Mitochondrial AAA Proteases AFG3L2 and YME1L Impairs Mitochondrial Structure and Respiratory Chain Biogenesis

International journal of molecular sciences, 2018-12, Vol.19 (12), p.3930

2018

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Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2

Movement disorders clinical practice (Hoboken, N.J.), 2022-09, Vol.9 (S2), p.S32-S35

2022

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A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability

Frontiers in genetics, 2015, Vol.6, p.311-311

2015

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Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation

Parkinsonism & related disorders, 2020-04, Vol.73, p.52-54

2020

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A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

Acta neuropathologica communications, 2020-06, Vol.8 (1), p.1-93, Article 93

2020

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Missense mutations in the AFG3L2 proteolytic domain account for ~1.5% of European autosomal dominant cerebellar ataxias

Human mutation, 2010-10, Vol.31 (10), p.1117-1124

2010

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Emerging roles of mitochondrial proteases in neurodegeneration

Biochimica et biophysica acta, 2010, Vol.1797 (1), p.1-10

2010

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Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement

Pediatric neurology, 2017-06, Vol.71, p.24-28

2017

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Spinocerebellar Ataxia Type 28—Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2

Cerebellum (London, England), 2019-08, Vol.18 (4), p.817-822

2019

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Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment

American journal of medical genetics. Part A, 2019-05, Vol.179 (5), p.827-831

2019

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Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies

In vivo (Athens), 2017-07, Vol.31 (4), p.511-525

2017

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Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

Spasmodic Dysphonia in a Patient with Spinocerebellar Ataxia Associated with a Rare AFG3L2 Variant (ATX‐AFG3L2)

Regulation of mitochondrial proteostasis by the proton gradient

Prohibitin 1 regulates mtDNA release and downstream inflammatory responses

Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing

Netrin‐1 attenuates cerebral ischemia/reperfusion injury by limiting mitochondrial ROS and Ca2+ levels via activation of AKT phosphorylation and mitochondrial m‐AAA protease AFG3L2

Dual regulation of SLC25A39 by AFG3L2 and iron controls mitochondrial glutathione homeostasis

Mitochondrial protein synthesis quality control

Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation

Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders

Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia

Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

Novel compound heterozygous mutations in the AFG3L2 gene in a Chinese child with microcephaly, early-onset seizures, and cerebral atrophy

AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients

Loss of Mitochondrial AAA Proteases AFG3L2 and YME1L Impairs Mitochondrial Structure and Respiratory Chain Biogenesis

Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability

Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

Missense mutations in the AFG3L2 proteolytic domain account for ~1.5% of European autosomal dominant cerebellar ataxias

Emerging roles of mitochondrial proteases in neurodegeneration

Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement

Spinocerebellar Ataxia Type 28—Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2

Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment

Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies

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