SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in Drosophila. - Wikidata - awgldk - TriplyDB

SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in Drosophila.

SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in Drosophila.

http://www.wikidata.org/entity/Q41835189

about

Emerging therapies and challenges in spinal muscular atrophy Oligomeric Properties of Survival Motor Neuron·Gemin2 Complexes Reconstitution of the human U snRNP assembly machinery reveals stepwise Sm protein organization Developing therapies for spinal muscular atrophy.Towards an understanding of regulating Cajal body activity by protein modification.SMN - A chaperone for nuclear RNP social occasions?Diverse role of survival motor neuron protein.Identification of processing elements and interactors implicate SMN, coilin and the pseudogene-encoded coilp1 in telomerase and box C/D scaRNP biogenesis.Therapeutic strategies for spinal muscular atrophy: SMN and beyond.SMN and coilin negatively regulate dyskerin association with telomerase RNA.Transcriptomic comparison of Drosophila snRNP biogenesis mutants reveals mutant-specific changes in pre-mRNA processing: implications for spinal muscular atrophy.Self-oligomerization regulates stability of survival motor neuron protein isoforms by sequestering an SCFSlmb degron.

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P2860

SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in Drosophila.

http://www.wikidata.org/entity/Q41835189

description

2014 nî lūn-bûn

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2014年の論文

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name

SMA-causing missense mutations ...... es when modeled in Drosophila.

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SMA-causing missense mutations ...... es when modeled in Drosophila.

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prefLabel

SMA-causing missense mutations ...... es when modeled in Drosophila.

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JOURNAL.PGEN.1004489

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SMA-causing missense mutations ...... pes when modeled in Drosophila

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Akash R Patlolla

http://www.w3.org/2001/XMLSchema#string

Gregory D Van Duyne

http://www.w3.org/2001/XMLSchema#string

John J Noto

http://www.w3.org/2001/XMLSchema#string

Kavita Praveen

http://www.w3.org/2001/XMLSchema#string

Kelsey M Gray

http://www.w3.org/2001/XMLSchema#string

Ying Wen

http://www.w3.org/2001/XMLSchema#string

P2860

Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy

Modeling spinal muscular atrophy in Drosophila

Structure of a key intermediate of the SMN complex reveals Gemin2's crucial function in snRNP assembly

Two distinct arginine methyltransferases are required for biogenesis of Sm-class ribonucleoproteins

Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins.

The survival motor neuron protein forms soluble glycine zipper oligomers

Targeted gene expression as a means of altering cell fates and generating dominant phenotypes

Regulation of SMN protein stability

A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy

Identification and characterization of a spinal muscular atrophy-determining gene

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e1004489

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scholarly article

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10.1371/JOURNAL.PGEN.1004489

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8

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10

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A. Gregory Matera

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2014-08-21T00:00:00Z

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264987996

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4140637

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