Familial hyperckemia and calf hypertrophy secondary to a caveolin-3 mutation

Idiopathic hyperckemia has been described as persistent serum creatine kinase (CK) elevation at the least 1.5 occasions the higher restrict of regular in people with in any other case regular laboratory findings and neurological examination. This kind of hyperckemia encompasses each sporadic and familial instances, which have been discovered to be asymptomatic or sub-clinical, presenting with gentle signs, similar to myalgias or cramps. Genetic causes of hyperckemia have been not often described. The authors intention to describe a benign autosomal dominant situation brought on by a uncommon mutation within the caveolin geneCaveolin gene encodes for structural membrane proteins in muscle.

The phenotypes of 22 sufferers with both an ARID2 heterozygous mutation or haploinsufficiency have been reviewed. Comprehensive molecular analyses have been carried out utilizing somatic and induced pluripotent stem cells (iPSCs) of a affected person with ARID2 haploinsufficiency in addition to utilizing the mouse mannequin of Arid2 haploinsufficiency by CRISPR/Cas9 gene enhancing. The phenotypic traits of ARID2 deficiency embrace RASopathy, Coffin-Lowy syndrome or Coffin-Siris syndrome or undefined syndromic ID.
Transient ARID2 knockout HeLa cells utilizing an shRNA elevated ERK1 and ERK2 phosphorylation. Impaired neuronal differentiation with enhanced RAS-MAPK exercise was noticed in patient-iPSCs. In addition, Arid2 haploinsufficient mice exhibited lowered physique dimension and studying/reminiscence deficit. ARID2 haploinsufficiency was related to lowered IFITM1 expression, which interacts with caveolin-1 (CAV-1) and inhibits ERK activation.
Duck meat is taken into account a delicacy, however selecting the very best meat is problematic. Caveolin-3 (CAV-3) is a muscle-specific protein marker in animals. The objective of the present research was to detect the traits of Cav-3 gene in geese. 2. Full-length Cav-3 was acquired from geese (Anas platyrhynchos) utilizing reverse transcriptase PCR and speedy amplification of cDNA ends. DNAMAN software program was used for homology comparisons. Quantitative reverse transcription-PCR, PCR-single-strand conformation polymorphism, and sequencing have been used to decide Cav-3 expression and polymorphism of a single nucleotide, respectively.

Caveolin-3: A Causative Process of Chicken Muscular Dystrophy

The etiology of hen muscular dystrophy is the synthesis of aberrant WW area containing E3 ubiquitin-protein ligase 1 (WWP1) protein made by a missense mutation of WWP1 gene. The β-dystroglycan that confers stability to sarcolemma was recognized as a substrate of WWP protein, which induces the subsequent molecular collapse. The aberrant WWP1 will increase the ubiquitin ligase-mediated ubiquitination following extreme degradation of sarcolemmal and cytoplasmic β-dystroglycan, and an erased β-dystroglycan in dystrophic αW fibers will lead to molecular imperfection of the dystrophin-glycoprotein advanced (DGC).

The DGC is a core protein of costamere that’s a necessary a part of power transduction and protects the muscle fibers from contraction-induced harm. Caveolin-3 (Cav-3) and dystrophin bind competitively to the identical web site of β-dystroglycan, and extreme Cav-Three on sarcolemma will block the interplay of dystrophin with β-dystroglycan, which is another excuse for the disruption of the DGC. It is understood that fast-twitch glycolytic fibers are extra delicate and weak to contraction-induced small tears than slow-twitch oxidative fibers below a number of diseased situations.

Despite their rising relevance to absolutely perceive illness pathogenesis, we have now as but a poor understanding as to how biomechanical indicators are built-in with particular biochemical pathways to decide cell behaviour. Mesothelial-to-mesenchymal transition (MMT) markers colocalized with TGF-β1-dependent signaling and yes-associated protein (YAP) activation throughout biopsies from totally different pathologies exhibiting peritoneal fibrosis, supporting mechanotransduction as a central driving element of those class of fibrotic lesions and its crosstalk with particular signaling pathways.

Transcriptome and proteome profiling of the response of mesothelial cells (MCs) to linear cyclic stretch revealed molecular adjustments appropriate with bona fide MMT, which (i) overlapped with established YAP goal gene subsets, and have been largely depending on endogenous TGF-β1 signaling. Importantly, TGF-β1 blockade blunts the transcriptional upregulation of those gene signatures, however not the mechanical activation and nuclear translocation of YAP per se. We studied the function therein of caveolin-1 (CAV1), a plasma membrane mechanotransducer.

Familial hyperckemia and calf hypertrophy secondary to a caveolin-3 mutation

Adiponectin is secreted through caveolin 1-dependent mechanisms in white adipocytes

Here we have now investigated the function of the protein caveolin 1 (Cav1) and caveolae within the secretion of the white adipocyte hormone adiponectin. Using mouse major subcutaneous adipocytes genetically depleted of Cav1, we present that the adiponectin secretion, stimulated both adrenergically or by insulin, is abrogated whereas basal (unstimulated) launch of adiponectin is elevated. Adiponectin secretion is equally affected in wildtype mouse and human adipocytes the place the caveolae construction was chemically disrupted.

The altered ex vivo secretion in adipocytes remoted from Cav1 null mice is accompanied by lowered serum ranges of the high-molecular weight (HMW) type of adiponectin whereas the whole focus of adiponectin is unaltered. Interestingly, ranges of HMW adiponectin are maintained in adipose tissue from Cav1-depleted mice, signifying that a secretory defect is current. The gene expression of key regulatory proteins recognized to be concerned in cAMP/adrenergically triggered adiponectin exocytosis (the beta Three adrenergic receptor and trade protein instantly activated by cAMP) stays intact in Cav1 null adipocytes.

Anti-Caveolin-1 antibody

STJ92051 200 µl
EUR 197
Description: Caveolin-1 is a protein encoded by the CAV1 gene which is approximately 20,4 kDa. Caveolin-1 is localised to the Golgi apparatus membrane and cell membrane. It is involved in eNOS activation and regulation, focal adhesion and lipoprotein metabolism. It is a scaffolding protein that makes up the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN which is an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. Caveolin-1 is expressed in the brain. Mutations in the CAV1 gene may result in pulmonary hypertension and lipodystrophy. STJ92051 was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. This polyclonal antibody detects endogenous levels of Caveolin-1 protein.

anti- Caveolin-1 antibody

FNab01313 100µg
EUR 505.25
Description: Antibody raised against Caveolin-1

anti- Caveolin-1 antibody

FNab01314 100µg
EUR 505.25
Description: Antibody raised against Caveolin-1

Anti-Caveolin-1 antibody

PAab01313 100 ug
EUR 355

anti-Caveolin 1

YF-PA10691 100 ug
EUR 403
Description: Rabbit polyclonal to Caveolin 1

Rabbit Polyclonal antibody Anti-CRBN

Anti-CRBN 50 µg
EUR 349

Polyclonal Goat anti-GST α-form

GST-ANTI-1 50 uL
EUR 280

Anti-Caveolin-1/CAV1 Antibody

PA1514 100ug/vial
EUR 334

Anti-Caveolin-1/CAV1 Antibody

PB9165 100ug/vial
EUR 334

Anti-Caveolin 1, Biotinylated antibody

STJ73171 100 µg
EUR 359

Anti-human Caveolin-1 antibody

A1506-50
EUR 468

Anti-Caveolin-1 Rabbit Monoclonal Antibody

M00179 100ug/vial
EUR 397
Description: Rabbit Monoclonal Caveolin-1 Antibody. Validated in IF, IHC, WB and tested in Human.

Polyclonal Goat Anti-Caveolin 1 Antibody

AMM04925G 0.1 mg
EUR 484
Description: A polyclonal antibody raised in Goat that recognizes and binds to Human Goat Anti-Caveolin 1 . This antibody is tested and proven to work in the following applications:

Goat Anti Caveolin 1 Polyclonal Antibody

CPBT-65031GC 0.1 mg
EUR 861

Anti-Phospho-Caveolin-1 (Y14) antibody

STJ90210 200 µl
EUR 197
Description: Rabbit polyclonal to Phospho-Caveolin-1 (Y14).

Caveolin-1 Antibody

33331-100ul 100ul
EUR 252

Caveolin-1 Antibody

33331-50ul 50ul
EUR 187

Caveolin-1 Antibody

48674-100ul 100ul
EUR 333

Caveolin-1 Antibody

48674-50ul 50ul
EUR 239

Caveolin 1 Antibody

AF5372 200ul
EUR 304
Description: Caveolin 1 Antibody detects endogenous levels of total Caveolin 1.

Caveolin-1 Antibody

AF6386 200ul
EUR 304
Description: Caveolin-1 Antibody detects endogenous levels of total Caveolin-1.

Caveolin- 1 Antibody

ABF0126 100 ug
EUR 438

Caveolin 1 Antibody

ABF5372 100 ug
EUR 438

Caveolin- 1 Antibody

ABF6386 100 ug
EUR 438

Caveolin-1 Antibody

AF0126 200ul
EUR 304
Description: Caveolin-1 antibody detects endogenous levels of total Caveolin-1.

Caveolin-1 Antibody

A1010-50
EUR 403

Caveolin 1 antibody

20R-1949 50 ug
EUR 281
Description: Rabbit polyclonal Caveolin 1 antibody

Caveolin 1 antibody

20R-2291 50 ug
EUR 281
Description: Rabbit polyclonal Caveolin 1 antibody

Caveolin 1 antibody

70R-31113 100 ug
EUR 327
Description: Rabbit polyclonal Caveolin 1 antibody

Caveolin 1 antibody

70R-35767 100 ug
EUR 327
Description: Rabbit polyclonal Caveolin 1 antibody

Caveolin 1 antibody

70R-49479 100 ul
EUR 244
Description: Purified Polyclonal Caveolin 1 antibody

Caveolin 1 antibody

70R-49480 100 ul
EUR 244
Description: Purified Polyclonal Caveolin 1 antibody

Caveolin-1 Antibody

8219-002mg 0.02 mg
EUR 171.82
Description: Caveolin-1 Antibody: Caveolin-1 is a scaffolding protein that is the main component of the caveolae plasma membranes found in most cell types (1). The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression (2). The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade (3). Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy (4).

Caveolin-1 Antibody

8219-01mg 0.1 mg
EUR 436.42
Description: Caveolin-1 Antibody: Caveolin-1 is a scaffolding protein that is the main component of the caveolae plasma membranes found in most cell types (1). The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression (2). The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade (3). Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy (4).

Anti-Caveolin-3 Antibody

A00990 100ug
EUR 765
Description: Rabbit Polyclonal Caveolin-3 Antibody. Validated in IF, WB and tested in Human, Mouse, Rat.

anti-Caveolin-1 (Ab-14)

LF-PA20068 100 ul
EUR 334
Description: Rabbit polyclonal to Caveolin-1

anti-Caveolin-1 (Phospho-Tyr14)

LF-PA20069 100 ul
EUR 354
Description: Rabbit polyclonal to Caveolin-1 (Phospho-Tyr14)

anti-Caveolin 3

YF-PA23364 50 ul
EUR 334
Description: Mouse polyclonal to Caveolin 3

Anti-Caveolin-1 Rabbit Monoclonal Antibody (RM325)

A1840-50
EUR 311

Anti-Caveolin-3/CAV3 Antibody

PA1523 100ug/vial
EUR 334

Anti-Caveolin-2/CAV2 Antibody

PA1540 100ug/vial
EUR 334

Anti-Caveolin-2/CAV2 Antibody

PB9166 100ug/vial
EUR 334

Anti-Caveolin-3/CAV3 Antibody

A00990-2 100ug/vial
EUR 334

Caveolin-1 Polyclonal Antibody

ES1872-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against Caveolin-1 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, WB, ELISA

Caveolin-1 Polyclonal Antibody

ES1872-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against Caveolin-1 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, WB, ELISA

Caveolin-1 Polyclonal Antibody

ES1873-100ul 100ul
EUR 279
Description: A Rabbit Polyclonal antibody against Caveolin-1 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC, IF, WB, ELISA

Caveolin-1 Polyclonal Antibody

ES1873-50ul 50ul
EUR 207
Description: A Rabbit Polyclonal antibody against Caveolin-1 from Human/Mouse/Rat. This antibody is tested and validated for WB, ELISA, IHC, IF, WB, ELISA

Polyclonal Caveolin-1 Antibody

APG02445G 0.05ml
EUR 528
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Caveolin-1 . This antibody is tested and proven to work in the following applications:

Polyclonal Caveolin-1 Antibody

APG02446G 0.1ml
EUR 484
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Caveolin-1 . This antibody is tested and proven to work in the following applications:

Caveolin-1 Polyclonal Antibody

ABP50873-003ml 0.03ml
EUR 158
Description: A polyclonal antibody for detection of Caveolin-1 from Human, Mouse, Rat. This Caveolin-1 antibody is for WB, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human Caveolin-1 around the non-phosphorylation site of Y14

Caveolin-1 Polyclonal Antibody

ABP50873-01ml 0.1ml
EUR 289
Description: A polyclonal antibody for detection of Caveolin-1 from Human, Mouse, Rat. This Caveolin-1 antibody is for WB, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human Caveolin-1 around the non-phosphorylation site of Y14

Caveolin-1 Polyclonal Antibody

ABP50873-02ml 0.2ml
EUR 414
Description: A polyclonal antibody for detection of Caveolin-1 from Human, Mouse, Rat. This Caveolin-1 antibody is for WB, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human Caveolin-1 around the non-phosphorylation site of Y14

Caveolin-1 Polyclonal Antibody

ABP50874-003ml 0.03ml
EUR 158
Description: A polyclonal antibody for detection of Caveolin-1 from Human, Mouse, Rat. This Caveolin-1 antibody is for WB, IHC-P, IF, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from the C-terminal region of human Caveolin-1 at AA range: 100-180

Caveolin-1 Polyclonal Antibody

ABP50874-01ml 0.1ml
EUR 289
Description: A polyclonal antibody for detection of Caveolin-1 from Human, Mouse, Rat. This Caveolin-1 antibody is for WB, IHC-P, IF, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from the C-terminal region of human Caveolin-1 at AA range: 100-180

Caveolin-1 Polyclonal Antibody

ABP50874-02ml 0.2ml
EUR 414
Description: A polyclonal antibody for detection of Caveolin-1 from Human, Mouse, Rat. This Caveolin-1 antibody is for WB, IHC-P, IF, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from the C-terminal region of human Caveolin-1 at AA range: 100-180

Caveolin 1 (CAV1) Antibody

20-abx116788
  • EUR 732.00
  • EUR 398.00
  • 150 ul
  • 50 ul

Caveolin 1 (CAV1) Antibody

abx122002-100ug 100 ug
EUR 391

Caveolin 1 (CAV1) Antibody

20-abx125305
  • EUR 495.00
  • EUR 704.00
  • EUR 356.00
  • 100 ul
  • 200 ul
  • 50 ul

Caveolin 1 (CAV1) Antibody

20-abx100474
  • EUR 398.00
  • EUR 133.00
  • EUR 1107.00
  • EUR 537.00
  • EUR 314.00
  • 100 ug
  • 10 ug
  • 1 mg
  • 200 ug
  • 50 ug

Caveolin 1 (CAV1) Antibody

20-abx100475
  • EUR 411.00
  • EUR 133.00
  • EUR 1135.00
  • EUR 551.00
  • EUR 314.00
  • 100 ug
  • 10 ug
  • 1 mg
  • 200 ug
  • 50 ug

Caveolin 1 (CAV1) Antibody

20-abx100476
  • EUR 425.00
  • EUR 133.00
  • EUR 1177.00
  • EUR 578.00
  • EUR 328.00
  • 100 ug
  • 10 ug
  • 1 mg
  • 200 ug
  • 50 ug

Caveolin-1 (CAV1) Antibody

20-abx137365
  • EUR 704.00
  • EUR 328.00
  • EUR 230.00
  • 100 ug
  • 20 ug
  • 5 ug

Caveolin 1 (CAV1) Antibody

20-abx000539
  • EUR 411.00
  • EUR 592.00
  • EUR 314.00
  • 100 ul
  • 200 ul
  • 50 ul

Caveolin 1 (CAV1) Antibody

20-abx009491
  • EUR 300.00
  • EUR 439.00
  • EUR 189.00
  • 100 ul
  • 200 ul
  • 30 ul

Caveolin 1 (CAV1) Antibody

20-abx009492
  • EUR 300.00
  • EUR 439.00
  • EUR 189.00
  • 100 ul
  • 200 ul
  • 30 ul

Caveolin 1 (pT14) Antibody

20-abx009682
  • EUR 314.00
  • EUR 467.00
  • EUR 203.00
  • 100 ul
  • 200 ul
  • 30 ul

Caveolin 1 (pY14) Antibody

abx010493-100ug 100 ug
EUR 439

Caveolin 1 (CAV1) Antibody

20-abx013031
  • EUR 314.00
  • EUR 98.00
  • EUR 398.00
  • EUR 495.00
  • 100 ug
  • 10 ug
  • 200 ug
  • 300 µg

Caveolin 1 (CAV1) Antibody

abx019037-100ug 100 ug
EUR 342

Caveolin 1 (CAV1) Antibody

abx431142-200ul 200 ul
EUR 384

Caveolin 1 Antibody (Biotin)

abx431143-200ul 200 ul
EUR 384

Caveolin 1 (CAV1) Antibody

20-abx241052
  • EUR 411.00
  • EUR 300.00
  • 100 ul
  • 50 ul

Caveolin 1 (CAV1) Antibody

20-abx242330
  • EUR 411.00
  • EUR 300.00
  • 100 ul
  • 50 ul

Caveolin 1 (CAV1) Antibody

20-abx175748
  • EUR 1177.00
  • EUR 578.00
  • 1 mg
  • 200 ug

Caveolin 1 (CAV1) Antibody

20-abx175750
  • EUR 425.00
  • EUR 133.00
  • EUR 1191.00
  • EUR 578.00
  • EUR 328.00
  • 100 ug
  • 10 ug
  • 1 mg
  • 200 ug
  • 50 ug

Caveolin 1 (CAV1) Antibody

20-abx175751
  • EUR 1233.00
  • EUR 592.00
  • 1 mg
  • 200 ug

Caveolin 1 (CAV1) Antibody

20-abx175752
  • EUR 1288.00
  • EUR 620.00
  • 1 mg
  • 200 ug

Caveolin 1 (CAV1) Antibody

20-abx175753
  • EUR 1288.00
  • EUR 620.00
  • 1 mg
  • 200 ug

Caveolin 1 (CAV1) Antibody

20-abx175754
  • EUR 1316.00
  • EUR 634.00
  • 1 mg
  • 200 ug

Caveolin 1 (CAV1) Antibody

20-abx175755
  • EUR 1316.00
  • EUR 634.00
  • 1 mg
  • 200 ug

Caveolin 1 (CAV1) Antibody

20-abx175756
  • EUR 1372.00
  • EUR 648.00
  • 1 mg
  • 200 ug

Caveolin 1 (CAV1) Antibody

20-abx171646
  • EUR 787.00
  • EUR 411.00
  • 1 mg
  • 200 ug

Caveolin 1 (CAV1) Antibody

20-abx171647
  • EUR 843.00
  • EUR 439.00
  • 1 mg
  • 200 ug

Caveolin 1 (CAV1) Antibody

20-abx171648
  • EUR 843.00
  • EUR 439.00
  • 1 mg
  • 200 ug

Caveolin 1 (CAV1) Antibody

20-abx171649
  • EUR 871.00
  • EUR 453.00
  • 1 mg
  • 200 ug

Caveolin-1 (CAV1) Antibody

abx231313-100ug 100 ug
EUR 481

Caveolin-1 (CAV1) Antibody

abx231314-100ug 100 ug
EUR 481

Caveolin 1 (CAV1) Antibody

abx330500-100ul 100 ul
EUR 425

Caveolin 1 (CAV1) Antibody

abx332130-100ul 100 ul
EUR 425

Caveolin 1 (CAV1) Antibody

20-abx327354
  • EUR 314.00
  • EUR 244.00
  • 100 ug
  • 50 ug

Caveolin 1 (CAV1) Antibody

20-abx328161
  • EUR 314.00
  • EUR 244.00
  • 100 ug
  • 50 ug

Caveolin-1 Polyclonal Antibody

40684-100ul 100ul
EUR 252

Caveolin-1 Polyclonal Antibody

40684-50ul 50ul
EUR 187

Caveolin-1 Conjugated Antibody

C48674 100ul
EUR 397

Caveolin 1 antibody (Tyr14)

70R-35245 100 ug
EUR 327
Description: Purified Rabbit polyclonal Caveolin 1 antibody (Tyr14)

Anti-Caveolin-1 Rabbit Monoclonal Antibody, Clone#RM325

M00179-2 100uL
EUR 385
Description: Anti-Caveolin-1 Rabbit Monoclonal Antibody, Clone#RM325 tested in WB, IHC, reactive to Human

Microscopy and fractionation research point out that adiponectin vesicles don’t co-localise with Cav1 however that some vesicles are related to a particular fraction of caveolae. Our research suggest that Cav1 has an vital function in secretion of HMW adiponectin, though adiponectin-containing vesicles usually are not clearly related to this protein. We counsel that Cav1, and/or the caveolae area, is important for organisation of signalling pathways concerned within the regulation of HMW adiponectin exocytosis, a operate that’s disrupted in Cav1/caveolae-depleted adipocytes.