(Q28206060)

English

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1

scientific article (publication date: December 2003)

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scholarly article

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Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1 (English)

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1 reference

10.1007/S00439-003-1025-2

https://api.crossref.org/works/10.1007/S00439-003-1025-2

16 March 2024

Sabine Rudnik-Schöneborn

6

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7

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Brunhilde Wirth

8

object named as

Brunhilde Wirth

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14520560

16 March 2024

author name string

Claudia Helmken

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Yvonne Hofmann

2

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Frank Schoenen

3

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Gabriela Oprea

4

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Heidrun Raschke

5

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language of work or name

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publication date

December 2003

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1 October 2003

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National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14520560

16 March 2024

full work available at URL

http://link.springer.com/content/pdf/10.1007/s00439-003-1025-2.pdf

Portable Document Format

1 reference

10.1007/S00439-003-1025-2

https://api.crossref.org/works/10.1007/S00439-003-1025-2

16 March 2024

http://link.springer.com/article/10.1007/s00439-003-1025-2/fulltext.html

1 reference

10.1007/S00439-003-1025-2

https://api.crossref.org/works/10.1007/S00439-003-1025-2

16 March 2024

http://link.springer.com/content/pdf/10.1007/s00439-003-1025-2

1 reference

10.1007/S00439-003-1025-2

https://api.crossref.org/works/10.1007/S00439-003-1025-2

16 March 2024

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114

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1

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11-21

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An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel nuclear structure containing the survival of motor neurons protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation?

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exclusion of Htra2-beta1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mouse model for spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA)

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spinal muscular atrophy: state-of-the-art and therapeutic perspectives

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Classification of spinal muscular atrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The spinal muscular atrophy disease gene product, SMN: A link between snRNP biogenesis and the Cajal (coiled) body

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The survival motor neuron protein interacts with the transactivator FUSE binding protein from human fetal brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SMN interacts with a novel family of hnRNP and spliceosomal proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

When is a deletion not a deletion? When it is converted

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Animal models of spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The HUGO Gene Nomenclature Committee (HGNC).

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential SMN2 expression associated with SMA severity

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A cell system with targeted disruption of the SMN gene: functional conservation of the SMN protein and dependence of Gemin2 on SMN.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

1 reference

https://pubmed.ncbi.nlm.nih.gov/14520560

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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