(Q36602142)

15 August 2017

The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes (English)

1 reference

15 August 2017

1 reference

12

Brunella Franco

1 reference

15 August 2017

Alessia Indrieri

1

0 references

Ivan Conte

Ivan Conte

2

0 references

Paola Bovolenta

Paola Bovolenta

11

0 references

Paola Goffrini

Paola Goffrini

9

0 references

Daniele Ghezzi

Daniele Ghezzi

7

0 references

Massimo Zeviani

8

Massimo Zeviani

1 reference

15 August 2017

Giancarlo Chesi

3

1 reference

15 August 2017

Alessia Romano

4

1 reference

15 August 2017

Jade Quartararo

5

1 reference

15 August 2017

Rosarita Tatè

6

1 reference

15 August 2017

Ileana Ferrero

10

1 reference

15 August 2017

22 January 2013

1 reference

15 August 2017

EMBO Molecular Medicine

1 reference

15 August 2017

5

1 reference

15 August 2017

2

1 reference

15 August 2017

280-293

1 reference

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Regulation of intracellular signalling through cysteine oxidation by reactive oxygen species

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Triggering of a novel intrinsic apoptosis pathway by the kinase inhibitor staurosporine: activation of caspase-9 in the absence of Apaf-1.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

miR-204 is required for lens and retinal development via Meis2 targeting

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Mitochondria and cell death: outer membrane permeabilization and beyond

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

An abundance of ubiquitously expressed genes revealed by tissue transcriptome sequence data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Neural cell cycle dysregulation and central nervous system diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

microRNA-24a is required to repress apoptosis in the developing neural retina

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Early neural cell death: numbers and cues from the developing neuroretina

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Mitochondria in neuroplasticity and neurological disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Microphthalmia with linear skin defects: a case report and review

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Mechanisms of neuronal death in disease: defining the models and the players.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Controlling morpholino experiments: don't stop making antisense.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

The BCL-2 protein family: opposing activities that mediate cell death

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

p53 activation by knockdown technologies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

The apoptosome: signalling platform of cell death

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Apoptosis in the medaka embryo in the early developmental stage

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Zebrafish miR-214 modulates Hedgehog signaling to specify muscle cell fate

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Caspase function in programmed cell death

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Retinal ganglion cells: dying to survive.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Unique anti-apoptotic activity of EAAC1 in injured motor neurons

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

X-inactivation and human disease: X-linked dominant male-lethal disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

The Drosophila melanogaster Apaf-1 homologue ARK is required for most, but not all, programmed cell death

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Specific ablation of the apoptotic functions of cytochrome C reveals a differential requirement for cytochrome C and Apaf-1 in apoptosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Cell death in the developing vertebrate retina

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Inhibitors of the quinone-binding site allow rapid superoxide production from mitochondrial NADH:ubiquinone oxidoreductase (complex I).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Stages of normal development in the medaka Oryzias latipes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Cytochrome C-mediated apoptosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Coupling of caspase-9 to Apaf1 in response to loss of pRb or cytotoxic drugs is cell-type-specific.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Overlapping Specificities of the Mitochondrial Cytochrome c and c1 Heme Lyases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Molecular determinants of retinal ganglion cell development, survival, and regeneration.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Apocytochrome c blocks caspase-9 activation and Bax-induced apoptosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Topology of superoxide production from different sites in the mitochondrial electron transport chain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Complementation of a yeast CYC3 deficiency identifies an X-linked mammalian activator of apocytochrome c

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Medaka--a model organism from the far East

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Generating neuronal diversity in the retina: one for nearly all.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Skewed X inactivation in X-linked disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

The genetics and pathology of oxidative phosphorylation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Vertebrate neural cell-fate determination: lessons from the retina

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Cytochrome c deficiency causes embryonic lethality and attenuates stress-induced apoptosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Caspase-9 and APAF-1 form an active holoenzyme

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Cytochrome c and dATP-dependent formation of Apaf-1/caspase-9 complex initiates an apoptotic protease cascade

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

High protonic potential actuates a mechanism of production of reactive oxygen species in mitochondria

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Identification and sequence of the gene encoding cytochrome c heme lyase in the yeast Saccharomyces cerevisiae

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Role of cytochrome c heme lyase in mitochondrial import and accumulation of cytochrome c in Saccharomyces cerevisiae

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Molecular cloning and characterization of the Saccharomyces cerevisiae CYT2 gene encoding cytochrome-c1-heme lyase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3569643

Loss of PINK1 function affects development and results in neurodegeneration in zebrafish

30 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.201201739

Early developmental pathology due to cytochrome c oxidase deficiency is revealed by a new zebrafish model

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.201201739

Pre-processed caspase-9 contained in mitochondria participates in apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.201201739

Compensatory growth of healthy cardiac cells in the presence of diseased cells restores tissue homeostasis during heart development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.201201739

Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.201201739

Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.201201739

Apaf-1-deficient fog mouse cell apoptosis involves hypo-polarization of the mitochondrial inner membrane, ATP depletion and citrate accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.201201739

Dimerization and processing of procaspase-9 by redox stress in mitochondria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.201201739

The protein kinase DYRK1A regulates caspase-9-mediated apoptosis during retina development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.201201739

Degradation of cytochrome oxidase subunits in mutants of yeast lacking cytochrome c and suppression of the degradation by mutation of yme1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.201201739

Yaf2 inhibits caspase 8-mediated apoptosis and regulates cell survival during zebrafish embryogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FEMMM.201201739

Translocation of apocytochrome c across the outer membrane of mitochondria

21 January 2018

1 reference

12 December 2020

Induction by glucose of an antimycin-insensitive, azide-sensitive respiration in the yeast Kluyveromyces lactis

1 reference

12 December 2020

Isolation of highly purified mitochondria from Saccharomyces cerevisiae

1 reference

12 December 2020

Threshold effect and tissue specificity. Implication for mitochondrial cytopathies

1 reference

12 December 2020

Identifiers

DOI

10.1002/EMMM.201201739

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

23239471

1 reference