Pages that link to "Q34729925"
Jump to navigation
Jump to search
The following pages link to Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. (Q34729925):
Displaying 50 items.
- dermatochalasis (Q1200233) (← links)
- wrinkly skin syndrome (Q8038353) (← links)
- Human H+ATPase a4 subunit mutations causing renal tubular acidosis reveal a role for interaction with phosphofructokinase-1 (Q24314455) (← links)
- Mutations in PYCR1 cause cutis laxa with progeroid features (Q24319369) (← links)
- TMEM165 deficiency causes a congenital disorder of glycosylation (Q24337807) (← links)
- Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells (Q24338139) (← links)
- Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II (Q24338205) (← links)
- De Barsy syndrome and ATP6V0A2-CDG (Q24598239) (← links)
- Autosomal recessive cutis laxa syndrome revisited (Q24600509) (← links)
- Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin (Q24606491) (← links)
- Bridging the Gap between Glycosylation and Vesicle Traffic (Q26750822) (← links)
- Determinants of Glycosaminoglycan (GAG) Structure (Q26797302) (← links)
- Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy (Q26853455) (← links)
- A developmental and genetic classification for malformations of cortical development: update 2012 (Q26858999) (← links)
- Golgi defects enhance APP amyloidogenic processing in Alzheimer's disease (Q27015433) (← links)
- Optic nerve compression and retinal degeneration in Tcirg1 mutant mice lacking the vacuolar-type H-ATPase a3 subunit (Q27321701) (← links)
- The N termini of a-subunit isoforms are involved in signaling between vacuolar H+-ATPase (V-ATPase) and cytohesin-2. (Q27675740) (← links)
- CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation (Q28114831) (← links)
- Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa (Q28115510) (← links)
- RETRACTED: VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification (Q28115568) (← links)
- TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation (Q28116046) (← links)
- VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy (Q28283153) (← links)
- Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism (Q28655384) (← links)
- Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation. (Q30359286) (← links)
- Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration (Q30399284) (← links)
- ENDEAVOUR update: a web resource for gene prioritization in multiple species (Q30482616) (← links)
- Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype (Q30524353) (← links)
- Actin Filaments Are Involved in the Coupling of V0-V1 Domains of Vacuolar H+-ATPase at the Golgi Complex. (Q30735746) (← links)
- Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites (Q31033205) (← links)
- Label-free analysis of o-glycosylation site-occupancy based on the signal intensity of glycopeptide/peptide ions (Q31146356) (← links)
- An extended nomenclature for mammalian V-ATPase subunit genes and splice variants (Q33540204) (← links)
- Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa (Q33765177) (← links)
- Insights into complexity of congenital disorders of glycosylation (Q33773216) (← links)
- Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II (Q33805798) (← links)
- A dual function of V0-ATPase a1 provides an endolysosomal degradation mechanism in Drosophila melanogaster photoreceptors (Q33886804) (← links)
- Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa (Q33929448) (← links)
- Functional vacuolar ATPase (V-ATPase) proton pumps traffic to the enterocyte brush border membrane and require CFTR. (Q33944537) (← links)
- A selective sweep of >8 Mb on chromosome 26 in the Boxer genome (Q33948736) (← links)
- Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome (Q34087616) (← links)
- A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip (Q34093285) (← links)
- Genome resequencing and bioinformatic analysis of SNP containing candidate genes in the autoimmune vitiligo Smyth line chicken model (Q34123644) (← links)
- Neurology of inherited glycosylation disorders (Q34269429) (← links)
- 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 (Q34275670) (← links)
- Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency (Q34329440) (← links)
- Genomic variants and variations in malformations of cortical development (Q34478370) (← links)
- pH-dependent cargo sorting from the Golgi (Q34695491) (← links)
- CDG nomenclature: time for a change! (Q35004003) (← links)
- MAN1B1 deficiency: an unexpected CDG-II (Q35069214) (← links)
- Mislocalization of large ARF-GEFs as a potential mechanism for BFA resistance in COG-deficient cells. (Q35175414) (← links)
- Fibrotic response in fibroblasts from congenital disorders of glycosylation (Q35216162) (← links)