Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
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Mutations in PYCR1 cause cutis laxa with progeroid featuresThe N termini of a-subunit isoforms are involved in signaling between vacuolar H+-ATPase (V-ATPase) and cytohesin-2.CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein GlycosylationRecurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaTMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal GlycosylationCutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolismWrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.Label-free analysis of o-glycosylation site-occupancy based on the signal intensity of glycopeptide/peptide ionsLoss of SNAP29 impairs endocytic recycling and cell motilityClinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.Neurology of inherited glycosylation disorders.Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient.Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.Mislocalization of large ARF-GEFs as a potential mechanism for BFA resistance in COG-deficient cells.Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression.Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegenerationNew insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutationGlobal serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation.RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndromeMutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA.Metabolic cutis laxa syndromes.Golgi glycosylation and human inherited diseases.Human diseases associated with form and function of the Golgi complex.Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.Skin manifestations in CDG.Congenital disorders of glycosylation: new defects and still counting.The membrane domain of vacuolar H(+)ATPase: a crucial player in neurotransmitter exocytotic release.Vacuolar H(+)-ATPase subunits Voa1 and Voa2 cooperatively regulate secretory vesicle acidification, transmitter uptake, and storage.Impaired ATP6V0A2 expression contributes to Golgi dispersion and glycosylation changes in senescent cells.Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa.Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.Effect of FKBP65, a putative elastin chaperone, on the coacervation of tropoelastin in vitro.Reply to Leao-Teles et al.Mammary epithelium-specific inactivation of V-ATPase reduces stiffness of extracellular matrix and enhances metastasis of breast cancer.Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.
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P2860
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 25 March 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
@cs
name
Loss-of-function mutations in ...... in secretion and cell survival
@en
Loss-of-function mutations in ...... n secretion and cell survival.
@nl
type
label
Loss-of-function mutations in ...... in secretion and cell survival
@en
Loss-of-function mutations in ...... n secretion and cell survival.
@nl
prefLabel
Loss-of-function mutations in ...... in secretion and cell survival
@en
Loss-of-function mutations in ...... n secretion and cell survival.
@nl
P2093
P2860
P50
P356
P1476
Loss-of-function mutations in ...... in secretion and cell survival
@en
P2093
Aikaterini Dimopoulou
Annika Aldinger
Berrin Yüksel-Konuk
Beyhan Tuysuz
Björn Fischer
Bridget Fernandez
Dianne N Abuelo
Dirk J Lefeber
Elaine C Davis
Emmanuelle Lemyre
P2860
P304
P356
10.1093/HMG/DDP148
P50
P577
2009-03-25T00:00:00Z