(Q37094802)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

main subject

spinal muscular atrophy

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Dario Ronchi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Angela Berardinelli

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Umberto Balottin

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Marina Mora

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Stefania Corti

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Monica Sciacco

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Giacomo P Comi

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

author name string

Raffaella Violano

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Dionis Vallejo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Emanuele Barca

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Valeria Lucchini

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Irene Colombo

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Luisa Villa

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Lucia Morandi

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Francesco Fortunato

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Daniela Parisi

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Antonio Toscano

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Gigliola Fagiolari

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Andreina Bordoni

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Salvatore DiMauro

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Maurizio Moggio

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

language of work or name

English

0 references

publication date

1 June 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

volume

72

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

page(s)

666-675

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

PGC-1α buffers ROS-mediated removal of mitochondria during myogenesis

4 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Resveratrol promotes myogenesis and hypertrophy in murine myoblasts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

PGC-1α rescues Huntington's disease proteotoxicity by preventing oxidative stress and promoting TFEB function.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Mitochondrial DNA deletions and depletion within paraspinal muscles

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Elevated PGC-1α activity sustains mitochondrial biogenesis and muscle function without extending survival in a mouse model of inherited ALS

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

PGC-1α, a potential therapeutic target for early intervention in Parkinson's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Regulation of mitochondrial biogenesis during myogenesis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

29 September 2017

Spinal muscular atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Robust quantification of the SMN gene copy number by real-time TaqMan PCR.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

PGC-1alpha/beta upregulation is associated with improved oxidative phosphorylation in cells harboring nonsense mtDNA mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Spinal muscular atrophy: a delayed development hypothesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Control of mitochondrial transcription specificity factors (TFB1M and TFB2M) by nuclear respiratory factors (NRF-1 and NRF-2) and PGC-1 family coactivators

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Essential role for the SMN complex in the specificity of snRNP assembly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

The SMN complex, an assemblyosome of ribonucleoproteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Macromolecular complexes: SMN--the master assembler

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

SMNrp is an essential pre-mRNA splicing factor required for the formation of the mature spliceosome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Interactions between bioenergetics and mitochondrial biogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

The survival motor neuron protein in spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Structure and organization of the human survival motor neurone (SMN) gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Identification and characterization of a spinal muscular atrophy-determining gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Mitochondrial dysfunction in a neural cell model of spinal muscular atrophy.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Cytochrome c oxidase deficiency in infancy

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Abnormalities in early markers of muscle involvement support a delay in myogenesis in spinal muscular atrophy.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

New insights into the pathogenesis of spinal muscular atrophy.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

New mutations in TK2 gene associated with mitochondrial DNA depletion.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Respiratory complications of the muscular dystrophies

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Severe depletion of mitochondrial DNA in spinal muscular atrophy

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Mitochondrial biogenesis during skeletal muscle regeneration

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

The SMN genes are subject to transcriptional regulation during cellular differentiation

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Lack of apoptosis in mitochondrial encephalomyopathies

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Survival motor neuron (SMN) protein in rat is expressed as different molecular forms and is developmentally regulated.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4944827

Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype

3 September 2018

1 reference

12 December 2020

Possible pathogenic role of muscle cell dysfunction in motor neuron death in spinal muscular atrophy

1 reference

12 December 2020

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency

1 reference

12 December 2020

Fatal mitochondrial myopathy with cytochrome-c-oxidase deficiency and subunit-restricted reduction of enzyme protein in two siblings: an autopsy-immunocytochemical study

1 reference

12 December 2020

A Randomized, Controlled Clinical Trial of Exercise in Patients with Spinal Muscular Atrophy: Methods and Baseline Characteristics

1 reference

12 December 2020

Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient

1 reference

12 December 2020

Progressive cytochrome c oxidase deficiency in a case of Kearns-Sayre syndrome: morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues

1 reference

12 December 2020

Differential SMN2 expression associated with SMA severity

1 reference

12 December 2020

The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy

1 reference

12 December 2020

10.1001/JAMANEUROL.2015.0178

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25844556%20AND%20SRC:MED&resulttype=core&format=json