Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

Leave a Comment / Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. / By

BACKGROUNDTo evaluate the descriptive epidemiological information on neuronal ceroid lipofuscinoses (NCLs) in Italy, determine the spectrum of mutations in the causative genes, and analyze attainable genotype-phenotype relations.METHODSA cohort of NCL sufferers was recruited by means of CLNet, a nationwide community of youngster neurology items. Diagnosis was based mostly on scientific and pathological standards following ultrastructural investigation of peripheral tissues.

Molecular affirmation was obtained throughout the diagnostic process or, when attainable, retrospectively.RESULTSOne hundred eighty-three NCL sufferers from 156 households have been recruited between 1966 and 2010; 124 of these sufferers (from 88 households) have been examined for identified NCL genes, with 9.7% of the sufferers in this pattern having not a genetic analysis. Late childish onset NCL (LINCL) accounted for 75.8% of molecularly confirmed circumstances, probably the most frequent kind being secondary to mutations in CLN2 (23.5%). Juvenile onset NCL sufferers accounted for 17.7% of this cohort, a smaller proportion than discovered in different European international locations. Gene mutations predicted extreme protein alterations in 65.5% of the CLN2 and 78.6% of the CLN7 circumstances.

An incidence price of 0.98/100,000 dwell births was discovered in 69 NCL sufferers born between 1992 and 2004, predicting 5 new circumstances a 12 months. Prevalence was 1.2/1,000,000.CONCLUSIONSDescriptive epidemiology information point out a decrease incidence of NCLs in Italy as in comparison with different European international locations.

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

A comparatively excessive quantity of personal mutations affecting all NCL genes would possibly clarify the genetic heterogeneity. Specific gene mutations have been related to extreme scientific programs in chosen NCL kinds solely.

Gab1 (Ab-627) Antibody
21283-50ul 50ul
EUR 187

GAB1 (Ab-627) Antibody
CSB-PA582871-
EUR 335
  • Form: liquid
  • Buffer: Supplied at 1.0mg/mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol. Antibodies were produced by immunizing rabbits with synthetic peptide and KLH conjugates. Antibo
  • Show more
Description: A polyclonal antibody against GAB1 (Ab-627). Recognizes GAB1 (Ab-627) from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000

GAB1 (Ab-627) Antibody
CSB-PA582871-100ul 100ul
EUR 316
  • Form: liquid
  • Buffer: Supplied at 1.0mg/mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol. Antibodies were produced by immunizing rabbits with synthetic peptide and KLH conjugates. Antibo
  • Show more
Description: A polyclonal antibody against GAB1 (Ab-627). Recognizes GAB1 (Ab-627) from Human, Mouse. This antibody is Unconjugated. Tested in the following application: ELISA, WB;WB:1:500-1:1000

gp100 (619-627) Peptide
20-abx266111
  • EUR 411.00
  • EUR 662.00
  • EUR 314.00
  • 10 mg
  • 25 mg
  • 5 mg
  • Shipped within 5-10 working days.

anti-Gab1 (Ab-627)
LF-PA20172 100 ul
EUR 334
Description: Rabbit polyclonal to Gab1

hsa-miR-627 Primers
MPH01927 150 ul / 10 uM
EUR 121

Gab1 (Ab-627) Conjugated Antibody
C21283 100ul
EUR 397

hsa-miR-627 miRNA Inhibitor
MIH03272 2 x 5.0 nmol
EUR 176

hsa-miR-627 miRNA Antagomir
MNH03272 2 x 5.0 nmol
EUR 329

hsa-miR-627-3p Primers
MPH03390 150 ul / 10 uM
EUR 121

hsa-miR-627-5p Primers
MPH03391 150 ul / 10 uM
EUR 121

Recombinant (E.Coli) purified Mycobacterium Tuberculosis Heat Shock Protein 65 (hsp65/groEL-2/Cpn60-2)
RP-627 10 ug
EUR 286

Zinc Finger Protein 627 (ZNF627) Antibody
abx037044-100ug 100 ug
EUR 391
  • Shipped within 5-10 working days.

Zinc Finger Protein 627 (ZNF627) Antibody
20-abx306221
  • EUR 411.00
  • EUR 1845.00
  • EUR 599.00
  • EUR 182.00
  • EUR 300.00
  • 100 ug
  • 1 mg
  • 200 ug
  • 20 ug
  • 50 ug
  • Shipped within 5-10 working days.

hsa-miR-627-3p miRNA Inhibitor
MIH03273 2 x 5.0 nmol
EUR 176

hsa-miR-627-5p miRNA Inhibitor
MIH03274 2 x 5.0 nmol
EUR 176

hsa-miR-627-3p miRNA Antagomir
MNH03273 2 x 5.0 nmol
EUR 329

hsa-miR-627-5p miRNA Antagomir
MNH03274 2 x 5.0 nmol
EUR 329

Anti-STAT4 (aa 613-627) antibody
STJ72162 100 µg
EUR 359

H-DL-Ala-DL-Ala-OH
G-1140.0005 5.0g
EUR 176
Description: Sum Formula: C6H12N2O3; CAS# [2867-20-1]

H-DL-Ala-DL-Ala-OH
G-1140.0025 25.0g
EUR 611
Description: Sum Formula: C6H12N2O3; CAS# [2867-20-1]

H-DL-Leu-DL-Ala-OH
G-2470.0005 5.0g
EUR 126
Description: Sum Formula: C9H18N2O3; CAS# [5060-46-8]

H-DL-Leu-DL-Ala-OH
G-2470.0025 25.0g
EUR 418
Description: Sum Formula: C9H18N2O3; CAS# [5060-46-8]

DL-Penylalaninol
5-07735 5g Ask for price

DL-Penylalaninol
5-07736 25g Ask for price

DL-Phenylglycinol
5-07747 25g Ask for price

DL-Phenylglycinol
5-07748 100g Ask for price

DL-Prolinol
5-07763 5g Ask for price

DL-Prolinol
5-07764 25g Ask for price

DL-Aminoglutethimide
B2040-100
EUR 120

DL-Aminoglutethimide
B2040-500
EUR 262

DL-TBOA
B5084-10 10 mg
EUR 389
Description: Ki: 42 ?M for EAAT1; 5.7 ?M for EAAT2Glutamate acts as an excitatory neurotransmitter in the mammalian central nervous system and a potent neurotoxin.

DL-TBOA
B5084-50 50 mg
EUR 1476
Description: Ki: 42 ?M for EAAT1; 5.7 ?M for EAAT2Glutamate acts as an excitatory neurotransmitter in the mammalian central nervous system and a potent neurotoxin.

DL-Adrenaline
B1326-50 50 mg
EUR 128
Description: DL-Epinephrine(DL-Adrenaline) is a hormone and a neurotransmitter.

DL-AP4
B6200-100 100 mg
EUR 203

DL-AP7
B6203-10 10 mg
EUR 242

DL-AP7
B6203-50 50 mg
EUR 811

DL-AP5
B6204-10 10 mg
EUR 132

DL-AP5
B6204-25 25 mg
EUR 242

DL-AP5
B6204-50 50 mg
EUR 411

DL-Cystine
20-abx184678
  • EUR 551.00
  • EUR 300.00
  • EUR 203.00
  • 100 g
  • 25 g
  • 5 g
  • Shipped within 1-2 weeks.

DL-Isoleucine
20-abx184679
  • EUR 342.00
  • EUR 230.00
  • EUR 189.00
  • 100 g
  • 25 g
  • 5 g
  • Shipped within 1-2 weeks.

DL-Panthenol
20-abx184680
  • EUR 286.00
  • EUR 217.00
  • EUR 509.00
  • 100 g
  • 25 g
  • 500 g
  • Shipped within 1-2 weeks.

DL-Valine
20-abx185402
  • EUR 495.00
  • EUR 370.00
  • 1 kg
  • 500 g
  • Shipped within 1-2 weeks.

DL-Lysine
20-abx185976
  • EUR 286.00
  • EUR 203.00
  • 100 g
  • 10 g
  • Shipped within 1-2 weeks.

DL-Dopa
abx187922-1000g 1000 g
EUR 718
  • Shipped within 1-2 weeks.

DL-Naproxen
20-abx182435
  • EUR 356.00
  • EUR 244.00
  • EUR 203.00
  • 100 g
  • 25 g
  • 5 g
  • Shipped within 1-2 weeks.

DL-Dithiothreitol
B7294-25000 25 g
EUR 299

DL-AP3
A4535-100 100 mg
EUR 197
Description: Competitive group I metabotropic glutamate receptor antagonist and inhibitor of phosphoserine phosphatase.

DL-Dopa
HY-113404 10mM/1mL
EUR 113

DL-Carnitine
HY-B0399A 500mg
EUR 108

DL-Epinephrine
HY-B0447 500mg
EUR 108

DL-Panthenol
HY-B1024 10mM/1mL
EUR 113

DL-Xylose
HY-B1070 100mg
EUR 119

DL-Glutamine
HY-B1346 100mg
EUR 119

DL-Lysine
HY-B2236 1g
EUR 119

DL-Arginine
HY-N0454 100mg
EUR 108

DL-Borneol
HY-N1368 100mg
EUR 119

DL-TBOA
HY-107522 10mM/1mL
EUR 563

DL-Pantolactone
GX6080-10G 10 g
EUR 50

DL-Pantolactone
GX6080-25G 25 g
EUR 61

DL-Cycloserine
F-1485.0050 50.0mg
EUR 212
Description: Sum Formula: C3H6N2O2; CAS# [68-39-3]

DL-Cycloserine
F-1485.0250 250.0mg
EUR 756
Description: Sum Formula: C3H6N2O2; CAS# [68-39-3]

DL-Cycloserine
F-1485.1000 1.0g
EUR 2207
Description: Sum Formula: C3H6N2O2; CAS# [68-39-3]

DL-Thyronine
F-2405.0001 1.0g
EUR 212
Description: Sum Formula: C15H15NO4; CAS# [1034-10-2]

DL-Thyronine
F-2405.0005 5.0g
EUR 756
Description: Sum Formula: C15H15NO4; CAS# [1034-10-2]

DL-Menthol
GL0768-100G 100 g
EUR 60

DL-Menthol
GL0768-250G 250 g
EUR 83

DL-Thiorphan
GL2922-25MG 25 mg
EUR 253

DL-Thiorphan
GL2922-5MG 5 mg
EUR 102

DL-Tryptophan
GM0325-100G 100 g
EUR 174

DL-Tryptophan
GM0325-25G 25 g
EUR 78

DL-Tryptophan
GM0325-5G 5 g
EUR 46

DL-Homoserine
GM0565-1G 1 g
EUR 62

DL-Homoserine
GM0565-5G 5 g
EUR 123

DL-Isoleucine
GM0912-100G 100 g
EUR 174

DL-Isoleucine
GM0912-10G 10 g
EUR 50

DL-Isoleucine
GM0912-25G 25 g
EUR 78

DL-Isoleucine
GM0912-50G 50 g
EUR 110

DL-Isoleucine
GM0912-5G 5 g
EUR 46

DL-Norleucine
GM0955-100G 100 g
EUR 150

DL-Norleucine
GM0955-25G 25 g
EUR 70

DL-Methionine
GM2607-100G 100 g
EUR 44

DL-Methionine
GM2607-1KG 1 kg
EUR 94

DL-Methionine
GM2607-250G 250 g
EUR 53

DL-Methionine
GM2607-500G 500 g
EUR 66

DL-Methionine
GM2607-5KG 5 kg
EUR 229

DL-Valine
GM3274-100G 100 g
EUR 66

DL-Valine
GM3274-1KG 1 kg
EUR 261

DL-Valine
GM3274-250G 250 g
EUR 102

DL-Valine
GM3274-25G 25 g
EUR 46

DL-Valine
GM3274-500G 500 g
EUR 158

DL-Alanine
GM4363-100G 100 g
EUR 46

DL-Alanine
GM4363-1KG 1 kg
EUR 102

DL-Alanine
GM4363-250G 250 g
EUR 53

DL-Alanine
GM4363-25G 25 g
EUR 40

DL-Alanine
GM4363-500G 500 g
EUR 70

DL-Alanine
GM4363-5KG 5 kg
EUR 281

DL-Cystine
GM5088-1G 1 g
EUR 62

DL-Cystine
GM5088-5G 5 g
EUR 126

DL-Phenylalanine
GM5287-100G 100 g
EUR 78

DL-Phenylalanine
GM5287-1KG 1 kg
EUR 261

DL-Phenylalanine
GM5287-250G 250 g
EUR 110

DL-Phenylalanine
GM5287-25G 25 g
EUR 50

DL-Phenylalanine
GM5287-500G 500 g
EUR 166

DL-Histidine
GM6216-100G 100 g
EUR 245

DL-Histidine
GM6216-25G 25 g
EUR 110

DL-Histidine
GM6216-5G 5 g
EUR 58

DL-Cysteine
GM6393-1G 1 g
EUR 54

DL-Tyrosine
GM6469-100G 100 g
EUR 150

DL-Tyrosine
GM6469-10G 10 g
EUR 50

DL-Tyrosine
GM6469-250G 250 g
EUR 269

DL-Tyrosine
GM6469-25G 25 g
EUR 70

DL-Tyrosine
GM6469-50G 50 g
EUR 102

DL-Proline
GM7043-100G 100 g
EUR 309

DL-Proline
GM7043-1G 1 g
EUR 46

DL-Proline
GM7043-25G 25 g
EUR 142

DL-Proline
GM7043-5G 5 g
EUR 66

DL-Arginine
GM7749-25G 25 g
EUR 102

DL-Arginine
GM7749-5G 5 g
EUR 50

DL-Threonine
GM8351-100G 100 g
EUR 102

DL-Threonine
GM8351-250G 250 g
EUR 181

DL-Threonine
GM8351-25G 25 g
EUR 54

DL-Threonine
GM8351-500G 500 g
EUR 309

DL-Serine
GM9506-100G 100 g
EUR 62

DL-Serine
GM9506-1KG 1 kg
EUR 269

DL-Serine
GM9506-250G 250 g
EUR 106

DL-Serine
GM9506-500G 500 g
EUR 174

DL-Leucine
GM9742-100G 100 g
EUR 94

DL-Leucine
GM9742-250G 250 g
EUR 181

DL-Leucine
GM9742-25G 25 g
EUR 54

DL-Leucine
GM9742-50G 50 g
EUR 72

DL-Lysine
GM9803-1G 1 g
EUR 42

DL-Lysine
GM9803-5G 5 g
EUR 62

DL-Arabinose
GC1241-100G 100 g
EUR 309

DL-Arabinose
GC1241-25G 25 g
EUR 134

DL-Xylose
GC6865-5G 5 g
EUR 86

DL-Homocystine
HY-W009390 5g
EUR 119

DL-Norvaline
HY-W010510 5g
EUR 119

DL-Homocysteine
HY-W040821 10mM/1mL
EUR 126

DL-Serine
HY-Y0507 100mg
EUR 108

DL-Menthol
HY-Y1683 100mg
EUR 108

DL-Phosphinothricin
P034-1G 1 g
EUR 270

DL-Phosphinothricin
P034-250MG 250 mg
EUR 77

Leave a Comment

Your email address will not be published. Required fields are marked *