Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. - sprookjes - yvandenbroek - TriplyDB

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

http://www.wikidata.org/entity/Q30438813

about

Pathogenic mechanisms in centronuclear myopathies Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction The beneficial role of proteolysis in skeletal muscle growth and stress adaptation The clearance of dying cells: table for two Autophagy and neurodegeneration Eaten alive: novel insights into autophagy from multicellular model systems Vici syndrome: a review Autophagy: an adaptive physiological countermeasure to cellular senescence and ischaemia/reperfusion-associated cardiac arrhythmias Disrupted autophagy undermines skeletal muscle adaptation and integrity Non-Canonical Cell Death Induced by p53 Immunologic manifestations of autophagy Autophagy in infection, inflammation, and immunity Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment Integrative data mining highlights candidate genes for monogenic myopathies.Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.Exercise-induced skeletal muscle remodeling and metabolic adaptation: redox signaling and role of autophagy.Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.Autophagy and human disease: emerging themes.Congenital myopathies: Natural history of a large pediatric cohort.Zebrafish ambra1a and ambra1b knockdown impairs skeletal muscle development.Identification of Atg2 and ArfGAP1 as Candidate Genetic Modifiers of the Eye Pigmentation Phenotype of Adaptor Protein-3 (AP-3) Mutants in Drosophila melanogaster.Defective autophagy through epg5 mutation results in failure to reduce germ plasm and mitochondria KIF1A/UNC-104 Transports ATG-9 to Regulate Neurodevelopment and Autophagy at Synapses.Bixin protects mice against ventilation-induced lung injury in an NRF2-dependent manner Homeostatic Control of Innate Lung Inflammation by Vici Syndrome Gene Epg5 and Additional Autophagy Genes Promotes Influenza Pathogenesis.EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.Deletion of autophagy-related 5 (Atg5) and Pik3c3 genes in the lens causes cataract independent of programmed organelle degradation.Role of Epg5 in selective neurodegeneration and Vici syndrome.Autophagy linked FYVE (Alfy/WDFY3) is required for establishing neuronal connectivity in the mammalian brain Autophagy and human diseases."Get the Balance Right": Pathological Significance of Autophagy Perturbation in Neuromuscular Disorders Protein breakdown in muscle wasting: role of autophagy-lysosome and ubiquitin-proteasome Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases.Skeletal muscle, autophagy, and physical activity: the ménage à trois of metabolic regulation in health and disease.Protecting the mitochondrial powerhouse.Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.Crosstalk between autophagy and inflammatory signalling pathways: balancing defence and homeostasis.Non-parametric Survival Analysis of EPG5 Gene with Age at Onset of Alzheimer's Disease.Monitoring and Measuring Autophagy.TBC1D20 mediates autophagy as a key regulator of autophagosome maturation.

P2860

7dca31782076b76f94244fbdf1d2de32b7fa8d55

P248

Q21131067-29F209BA-BFA5-47E3-8A76-8C5EF8824FE4 Q24336179-3B75D17E-7613-40D7-9132-CEF15FB668B6 Q26750990-80424229-B8D6-4B8B-B185-D5B7976E0A7C Q26753825-2AF98621-403E-4409-A4D1-C41AE5913741 Q26991692-532B6160-CECF-489B-BF3D-C3105A95A801 Q27005828-A7A83A0A-4FE9-42BB-990A-7F37FE3CCBB9 Q28068922-F406A1BD-EDC2-4277-AAA2-FD17A9A22FFD Q28070047-4A00D790-57AC-45F5-946E-DD2FAE034A39 Q28077297-A0DE1D7D-93A6-414F-A7A1-89869874F338 Q28080158-FFCED85B-8EE1-4915-9818-1E504F0D60B4 Q28256530-CBCE8CA6-A4E8-4FB5-8551-0585F2E1A96F Q29248363-D878276B-EB04-499A-A6C2-B3F95AC42328 Q30032671-77E85107-E287-4FA3-A6DC-60CDBE188B8A Q30865267-7488A14E-553B-4853-9221-CBAEB50C05E4 Q33410783-C4388966-826E-42CB-A26C-6D551E06C6CE Q33722890-F1ED9E16-6464-4BDE-8F2F-6F7115D9A567 Q33799606-4AC76B57-57C8-48A0-96B5-AD7CF2299AB6 Q34620377-CCE16042-5A4A-4514-BABD-1D6C6E0F1596 Q35106557-30212D61-8C74-4648-9A44-3268FAA086A0 Q35186864-70E5B193-AD95-489E-A506-89FC8C1057A7 Q35840841-6F42F02A-5FD6-4F99-AD8C-501528AC27AB Q36051487-C5915463-C60E-440C-8638-48111092DF7B Q36072246-546D076B-6E29-43A5-9E58-CED9B71F7B80 Q36427836-201A8613-5494-45FA-A833-BABC32E36568 Q36466493-B0FFFBED-8784-4B97-A064-02B3865A3475 Q36615500-0A758D3B-9BF3-426B-86F7-69DFE15128E3 Q36779575-2650DE97-7AB6-4021-8B9D-EF3545AB001A Q37107157-18C0903F-0E64-499F-B221-8E3554F5926C Q37270312-FA175889-E2C8-4636-809F-6B882B338B84 Q37429062-DB545507-0B50-46CD-8690-61785AA7C3C8 Q37610585-5F498F6A-070B-4E0F-BBD6-08A5BCE7FB0C Q38105829-120A3C00-F475-4049-9B68-344D0DD1D5E7 Q38156022-687E6C48-DC4E-4A4F-82B9-46735D527BA6 Q38165741-F960DCCB-7657-4EF3-AD3B-995DD90DAC99 Q38286869-612971C1-D660-42FE-B9AC-AF0EB3CD096C Q38682634-E84E374D-8DFD-4E54-9763-C621C196C821 Q38970279-9068E7BE-8261-4FD4-BA97-F7F7B2A9A88E Q39431124-F27C97D8-45A1-4E57-92D5-197E8FE90DAD Q40077790-3A3E05F6-0D53-4479-AF0F-DDFD1F442ACA Q41575670-AFA3A2B9-E589-4338-96B7-B63F9FEA0103

P2860

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

http://www.wikidata.org/entity/Q30438813

description

2012 nî lūn-bûn

@nan

2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

name

Recessive mutations in EPG5 ca ...... rder with defective autophagy.

@ast

Recessive mutations in EPG5 ca ...... rder with defective autophagy.

@en

type

label

Recessive mutations in EPG5 ca ...... rder with defective autophagy.

@ast

Recessive mutations in EPG5 ca ...... rder with defective autophagy.

@en

prefLabel

Recessive mutations in EPG5 ca ...... rder with defective autophagy.

@ast

Recessive mutations in EPG5 ca ...... rder with defective autophagy.

@en

P1433

Q30438813-65A6C240-BB09-4249-8570-B0B22BF2618B

P1476

Q30438813-08681AEA-9FCE-4E12-BFBB-95BB1BEAAC9D

P2093

Q30438813-06AE3468-1C1F-4D3D-847D-D79999EBDA50

Q30438813-09FF0D8D-3C4D-4840-826A-8B0927939A7C

Q30438813-0A5A5E9C-7635-49FD-B83E-4D1AF42D3544

Q30438813-13504782-26AC-4DF1-BA43-7839212A7F61

Q30438813-20713A28-7370-404A-925E-6B440E131848

Q30438813-42CF348A-3C5B-4A17-B950-08A9384A345D

Q30438813-4BA87EE1-14B4-407D-A68D-763D7FB6611E

Q30438813-502E6B13-7ADF-412E-9998-D15FCECD16FD

Q30438813-5AC38771-9064-4F14-A3F2-8E452DC8AE47

Q30438813-5ACCECE1-7285-4663-B59F-30FAA45542DC

P2860

Q30438813-0C1EDB53-54E4-4E0A-BC25-42A70E992722

Q30438813-0DCC490C-6EE6-4C90-80F1-E5CFE271AAF0

Q30438813-1919B244-C2D6-4782-B418-7531436D6692

Q30438813-285DD484-1BCA-44D7-BD12-81ED5917A0CB

Q30438813-2D7D2EAD-F2D7-4EC2-9CF5-2D0C76D16CE4

Q30438813-3E40BD74-8E71-4085-825F-701168844571

Q30438813-3E72459A-0F78-4325-9634-940E70231BBA

Q30438813-449A5BC6-DCB7-4DAD-88D2-55E1DB2AC34C

Q30438813-55169C6E-0C72-4F5F-9AEA-B2A696E4CC1A

Q30438813-5B4F2981-CDF4-477B-A7DD-82E85BBB3F4F

P2888

Q30438813-D4914B57-61DF-4DDF-A75A-201AF9B38411

P304

Q30438813-BB216B95-95C2-4C38-A101-2F5DAB1F82DB

P31

Q30438813-92B959A4-C3CB-432E-B2EB-20D9465F7153

P356

Q30438813-167653F1-7933-4DB3-BF39-FEAEB8BE06FC

P407

Q30438813-7740B789-9804-4834-93F9-C1ABAC55A392

P433

Q30438813-2047C0F4-637A-401D-900A-FAC336F30437

P478

Q30438813-8D0D5DAA-2924-4600-A240-800A5A895D2C

P50

Q30438813-1768111F-760E-43B2-B9AE-C1AE6FA03F44

Q30438813-2DC29C08-4F10-4276-843E-F4037F51F084

Q30438813-2DCC12B3-4CAD-4EDD-8E52-FF4DED552A15

Q30438813-317B22BA-C058-4803-AFFA-904EC171B31F

Q30438813-335CF8E5-FAB4-4C09-BB52-6BE1B6191920

Q30438813-85976233-2505-482E-93A5-54D1F56E48AD

Q30438813-9D5E04BA-B292-48E7-89D3-914251CF6C2F

Q30438813-AF3A73B9-4407-41C6-AA70-4DE91E252C7F

P577

Q30438813-FABAFBAB-A3F6-4440-BCCE-9004CC6BC1EA

P5875

Q30438813-A3247419-8FD5-4578-9429-BC3609EED7A6

P698

Q30438813-7756E25D-48EB-48F8-886F-03882095F8B5

P921

Q30438813-3E147C38-4AD8-4F96-8AEA-759E26CF39B5

P932

Q30438813-BD050B37-048F-4144-82C0-1F15BBE0A441

P356

P1433

Nature Genetics

P1476

Recessive mutations in EPG5 ca ...... order with defective autophagy

@en

P2093

Amber E ten Hoedt

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

Birgit Brandmeier

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

Caroline A Sewry

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

Christian Koerner

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

Christian Windpassinger

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

David Manchester

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

Doriette Soler

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

Dragana Josifova

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

Elizabeth Said

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

Frances Smith

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

P2860

Guidelines for the use and interpretation of assays for monitoring autophagy

Interactions with LC3 and polyubiquitin chains link nbr1 to autophagic protein turnover

Ambra1 regulates autophagy and development of the nervous system

Autophagy in the Pathogenesis of Disease

The Sequence Alignment/Map format and SAMtools

The consensus coding sequences of human breast and colorectal cancers

Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance

Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections

Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers

The role of autophagy in cardiomyocytes in the basal state and in response to hemodynamic stress

P2888

P304

83-87

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

P31

scholarly article

P356

10.1038/NG.2497

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

P407

P433

1

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

P478

45

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

P50

Heinz Jungbluth

Verity M McClelland

Michael Simpson

P577

2012-12-09T00:00:00Z

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

P5875

233880921

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

P698

23222957

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

P921

P932

4012842

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