Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
about
From phenologs to silent suppressors: Identifying potential therapeutic targets for human disease.The clinical landscape for SMA in a new therapeutic era.Advances in understanding the role of disease-associated proteins in spinal muscular atrophy.Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.The SMA Trust: the role of a disease-focused research charity in developing treatments for SMA.Metalloprotease-mediated cleavage of PlexinD1 and its sequestration to actin rods in the motoneuron disease spinal muscular atrophy (SMA).Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy.Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy.Neurochondrin interacts with the SMN protein suggesting a novel mechanism for Spinal Muscular Atrophy pathology.Convergence of independent DISC1 mutations on impaired neurite growth via decreased UNC5D expressionEvaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice
P2860
Q38611619-A128D552-18A4-42F3-8674-A2F6F4C3524FQ38667538-54334D50-19D2-4436-8799-DB296641AC35Q38668630-2DD7755A-6411-414D-AD4D-937F4DDBC9DAQ38715905-D0C41484-1B05-4405-A5DF-A5A3C12219E1Q39340553-6E695411-B819-4A08-98DD-722D89EF6C3CQ47827360-34C5FE8A-C476-4B26-98E3-BF1E202AFC60Q48144714-BB57419F-1365-4A12-A4D4-BB286D909B01Q49174285-8EDED74F-80E9-469D-9046-441C2536821CQ51025979-C9891144-6621-4F62-9072-4B772D8AB9EEQ51744183-E8478EAA-D296-47EF-A547-3641580D891FQ58590857-89643284-7F0A-4C45-8BAB-505A6AB9ADE6Q58762112-2E81D091-5B02-422D-A114-53704CD6D8D5
P2860
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
Neurocalcin Delta Suppression ...... estoring Impaired Endocytosis.
@en
type
label
Neurocalcin Delta Suppression ...... estoring Impaired Endocytosis.
@en
prefLabel
Neurocalcin Delta Suppression ...... estoring Impaired Endocytosis.
@en
P2093
P2860
P50
P1476
Neurocalcin Delta Suppression ...... estoring Impaired Endocytosis.
@en
P2093
Aaradhita Upadhyay
Anna Kaczmarek
Anne C Hart
Brunhilde Wirth
C Frank Bennett
Cathleen Bradler
Christian Gilissen
Frank Rigo
Heiko Löhr
Irmgard Hölker
P2860
P304
P356
10.1016/J.AJHG.2017.01.005
P407
P577
2017-01-20T00:00:00Z