(Q34777498)

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Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

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scholarly article

1 reference

Europe PubMed Central

4 August 2017

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways (English)

1 reference

Europe PubMed Central

4 August 2017

apoptotic process

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1 reference

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inferred from title

16

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Anna Bartoletti Stella

object named as

Anna Bartoletti Stella

9

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Cecilia Mancini

object named as

Cecilia Mancini

1

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Nicola Lo Buono

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Nicola Lo Buono

5

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Luisa Iommarini

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Luisa Iommarini

11

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Paola Roncaglia

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Paola Roncaglia

2

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object named as

Ada Funaro

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object named as

Giorgio Casari

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object named as

Dario Ghigo

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Alfredo Brusco

23

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Giovanni Stevanin

object named as

Giovanni Stevanin

4

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15

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Alexandra Durr

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Europe PubMed Central

4 August 2017

Stefano Gustincich

22

object named as

Stefano Gustincich

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Europe PubMed Central

4 August 2017

13

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Sylvie Forlani

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Europe PubMed Central

4 August 2017

Isabelle Le Ber

14

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Isabelle Le Ber

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Europe PubMed Central

4 August 2017

Claudia Cagnoli

12

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Claudia Cagnoli

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Europe PubMed Central

4 August 2017

author name string

Alessandro Brussino

3

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Europe PubMed Central

4 August 2017

Helena Krmac

6

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Europe PubMed Central

4 August 2017

Francesca Maltecca

7

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Europe PubMed Central

4 August 2017

Elena Gazzano

8

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Europe PubMed Central

4 August 2017

Maria Antonietta Calvaruso

10

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Europe PubMed Central

4 August 2017

Anna Maria Porcelli

19

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Europe PubMed Central

4 August 2017

Giuseppe Gasparre

21

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Europe PubMed Central

4 August 2017

publication date

18 June 2013

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Europe PubMed Central

4 August 2017

BMC Medical Genomics

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Europe PubMed Central

4 August 2017

6

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Europe PubMed Central

4 August 2017

22

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Europe PubMed Central

4 August 2017

https://scigraph.springernature.com/pub.10.1186/1755-8794-6-22

0 references

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Lipid peroxidation triggers neurodegeneration: a redox proteomics view into the Alzheimer disease brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Gene expression profiling in human neurodegenerative disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

FOXO3a regulates reactive oxygen metabolism by inhibiting mitochondrial gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Mitochondrial AAA proteases--towards a molecular understanding of membrane-bound proteolytic machines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Overview of flow cytometry and fluorescent probes for flow cytometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Autocatalytic processing of m-AAA protease subunits in mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Preventing mitochondrial fission impairs mitochondrial function and leads to loss of mitochondrial DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Expression and purification of recombinant annexin V for the detection of membrane alterations on apoptotic cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Mitochondrial transcription factor A (TFAM): roles in maintenance of mtDNA and cellular functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Cell division in the CNS: protective response or lethal event in post-mitotic neurons?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

TFAM-dependent and independent dynamics of mtDNA levels in C2C12 myoblasts caused by redox stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Rank products: a simple, yet powerful, new method to detect differentially regulated genes in replicated microarray experiments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Identification of a novel putative non-selenocysteine containing phospholipid hydroperoxide glutathione peroxidase (NPGPx) essential for alleviating oxidative stress generated from polyunsaturated fatty acids in breast cancer cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

DAVID: Database for Annotation, Visualization, and Integrated Discovery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Significance analysis of microarrays applied to the ionizing radiation response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Gene ontology: tool for the unification of biology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Identification and characterization of AFG3L2, a novel paraplegin-related gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

The YTA10-12 complex, an AAA protease with chaperone-like activity in the inner membrane of mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

A novel assay for apoptosis. Flow cytometric detection of phosphatidylserine expression on early apoptotic cells using fluorescein labelled Annexin V

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Rapid colorimetric assay for cellular growth and survival: Application to proliferation and cytotoxicity assays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Mineral fiber-induced malondialdehyde formation and effects of oxidant scavengers in phagocytic cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

Evidence for mitochondrial DNA damage by lipid peroxidation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

7 July 2018

The mitochondrial protease AFG3L2 is essential for axonal development

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-6-22

21 January 2018

Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-6-22

21 January 2018

Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-6-22

21 January 2018

Cell cycle dependent morphology changes and associated mitochondrial DNA redistribution in mitochondria of human cell lines.

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-6-22

21 January 2018

Pituitary adenylate cyclase-activating polypeptide protects astroglial cells against oxidative stress-induced apoptosis

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-6-22

21 January 2018

Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3689607

26 October 2018

https://api.crossref.org/works/10.1186%2F1755-8794-6-22

21 January 2018

Allelic Variation in Human Gene Expression

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-6-22

21 January 2018

Chaperone-like activity of the AAA domain of the yeast Yme1 AAA protease

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-6-22

21 January 2018

Luminometric assays of ATP, phosphocreatine, and creatine for estimation of free ADP and free AMP

1 reference

https://pubmed.ncbi.nlm.nih.gov/23777634

12 December 2020

based on heuristic

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Membrane protein degradation by AAA proteases in mitochondria: extraction of substrates from either membrane surface

1 reference

https://pubmed.ncbi.nlm.nih.gov/23777634

12 December 2020

based on heuristic

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Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR

1 reference

https://pubmed.ncbi.nlm.nih.gov/23777634

12 December 2020

based on heuristic

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Natural variation in human gene expression assessed in lymphoblastoid cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/23777634

12 December 2020

based on heuristic

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Use of fibroblast and lymphoblast cultures for detection of respiratory chain defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/23777634

12 December 2020

based on heuristic

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Identifiers

10.1186/1755-8794-6-22

1 reference

Europe PubMed Central

4 August 2017

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1 reference

Europe PubMed Central

4 August 2017

1 reference

Europe PubMed Central

4 August 2017

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