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 187.00

GAB1 (Ab-627) Antibody
CSB-PA582871-
EUR 335.00
  • 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 316.00
  • 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
  • 0
  • 1
  • 2
  • Shipped within 5-10 working days.

anti-Gab1 (Ab-627)
LF-PA20172 100 ul
EUR 334.00
Description: Rabbit polyclonal to Gab1

hsa-miR-627 Primers
MPH01927 150 ul / 10 uM
EUR 121.00

Gab1 (Ab-627) Conjugated Antibody
C21283 100ul
EUR 397.00

hsa-miR-627 miRNA Inhibitor
MIH03272 2 x 5.0 nmol
EUR 176.00

hsa-miR-627 miRNA Antagomir
MNH03272 2 x 5.0 nmol
EUR 329.00

hsa-miR-627-3p Primers
MPH03390 150 ul / 10 uM
EUR 121.00

hsa-miR-627-5p Primers
MPH03391 150 ul / 10 uM
EUR 121.00

Recombinant (E.Coli) purified Mycobacterium Tuberculosis Heat Shock Protein 65 (hsp65/groEL-2/Cpn60-2)
RP-627 10 ug
EUR 286.00

Zinc Finger Protein 627 (ZNF627) Antibody
abx037044-100ug 100 ug
EUR 391.00
  • 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
  • 0
  • 1
  • 2
  • 3
  • 4
  • Shipped within 5-10 working days.

hsa-miR-627-3p miRNA Inhibitor
MIH03273 2 x 5.0 nmol
EUR 176.00

hsa-miR-627-5p miRNA Inhibitor
MIH03274 2 x 5.0 nmol
EUR 176.00

hsa-miR-627-3p miRNA Antagomir
MNH03273 2 x 5.0 nmol
EUR 329.00

hsa-miR-627-5p miRNA Antagomir
MNH03274 2 x 5.0 nmol
EUR 329.00

Anti-STAT4 (aa 613-627) antibody
STJ72162 100 µg
EUR 359.00

H-DL-Ala-DL-Ala-OH
G-1140.0005 5.0g
EUR 176.00
Description: Sum Formula: C6H12N2O3; CAS# [2867-20-1]

H-DL-Ala-DL-Ala-OH
G-1140.0025 25.0g
EUR 611.00
Description: Sum Formula: C6H12N2O3; CAS# [2867-20-1]

H-DL-Leu-DL-Ala-OH
G-2470.0005 5.0g
EUR 126.00
Description: Sum Formula: C9H18N2O3; CAS# [5060-46-8]

H-DL-Leu-DL-Ala-OH
G-2470.0025 25.0g
EUR 418.00
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 120.00

DL-Aminoglutethimide
B2040-500
EUR 262.00

DL-TBOA
B5084-10 10 mg
EUR 389.00
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 1476.00
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 128.00
Description: DL-Epinephrine(DL-Adrenaline) is a hormone and a neurotransmitter.

DL-AP4
B6200-100 100 mg
EUR 203.00

DL-AP7
B6203-10 10 mg
EUR 242.00

DL-AP7
B6203-50 50 mg
EUR 811.00

DL-AP5
B6204-10 10 mg
EUR 132.00

DL-AP5
B6204-25 25 mg
EUR 242.00

DL-AP5
B6204-50 50 mg
EUR 411.00

DL-Cystine
20-abx184678
  • EUR 551.00
  • EUR 300.00
  • EUR 203.00
  • 0
  • 1
  • 2
  • Shipped within 1-2 weeks.

DL-Isoleucine
20-abx184679
  • EUR 342.00
  • EUR 230.00
  • EUR 189.00
  • 0
  • 1
  • 2
  • Shipped within 1-2 weeks.

DL-Panthenol
20-abx184680
  • EUR 286.00
  • EUR 217.00
  • EUR 509.00
  • 0
  • 1
  • 2
  • Shipped within 1-2 weeks.

DL-Valine
20-abx185402
  • EUR 495.00
  • EUR 370.00
  • 0
  • 1
  • Shipped within 1-2 weeks.

DL-Lysine
20-abx185976
  • EUR 286.00
  • EUR 203.00
  • 0
  • 1
  • Shipped within 1-2 weeks.

DL-Dopa
abx187922-1000g 1000 g
EUR 718.00
  • Shipped within 1-2 weeks.

DL-Naproxen
20-abx182435
  • EUR 356.00
  • EUR 244.00
  • EUR 203.00
  • 0
  • 1
  • 2
  • Shipped within 1-2 weeks.

DL-Dithiothreitol
B7294-25000 25 g
EUR 299.00

DL-AP3
A4535-100 100 mg
EUR 197.00
Description: Competitive group I metabotropic glutamate receptor antagonist and inhibitor of phosphoserine phosphatase.

DL-Dopa
HY-113404 10mM/1mL
EUR 113.00

DL-Carnitine
HY-B0399A 500mg
EUR 108.00

DL-Epinephrine
HY-B0447 500mg
EUR 108.00

DL-Panthenol
HY-B1024 10mM/1mL
EUR 113.00

DL-Xylose
HY-B1070 100mg
EUR 119.00

DL-Glutamine
HY-B1346 100mg
EUR 119.00

DL-Lysine
HY-B2236 1g
EUR 119.00

DL-Arginine
HY-N0454 100mg
EUR 108.00

DL-Borneol
HY-N1368 100mg
EUR 119.00

DL-TBOA
HY-107522 10mM/1mL
EUR 563.00

DL-Pantolactone
GX6080-10G 10 g
EUR 50.00

DL-Pantolactone
GX6080-25G 25 g
EUR 61.00

DL-Cycloserine
F-1485.0050 50.0mg
EUR 212.00
Description: Sum Formula: C3H6N2O2; CAS# [68-39-3]

DL-Cycloserine
F-1485.0250 250.0mg
EUR 756.00
Description: Sum Formula: C3H6N2O2; CAS# [68-39-3]

DL-Cycloserine
F-1485.1000 1.0g
EUR 2207.00
Description: Sum Formula: C3H6N2O2; CAS# [68-39-3]

DL-Thyronine
F-2405.0001 1.0g
EUR 212.00
Description: Sum Formula: C15H15NO4; CAS# [1034-10-2]

DL-Thyronine
F-2405.0005 5.0g
EUR 756.00
Description: Sum Formula: C15H15NO4; CAS# [1034-10-2]

DL-Menthol
GL0768-100G 100 g
EUR 60.00

DL-Menthol
GL0768-250G 250 g
EUR 83.00

DL-Thiorphan
GL2922-25MG 25 mg
EUR 253.00

DL-Thiorphan
GL2922-5MG 5 mg
EUR 102.00

DL-Tryptophan
GM0325-100G 100 g
EUR 174.00

DL-Tryptophan
GM0325-25G 25 g
EUR 78.00

DL-Tryptophan
GM0325-5G 5 g
EUR 46.00

DL-Homoserine
GM0565-1G 1 g
EUR 62.00

DL-Homoserine
GM0565-5G 5 g
EUR 123.00

DL-Isoleucine
GM0912-100G 100 g
EUR 174.00

DL-Isoleucine
GM0912-10G 10 g
EUR 50.00

DL-Isoleucine
GM0912-25G 25 g
EUR 78.00

DL-Isoleucine
GM0912-50G 50 g
EUR 110.00

DL-Isoleucine
GM0912-5G 5 g
EUR 46.00

DL-Norleucine
GM0955-100G 100 g
EUR 150.00

DL-Norleucine
GM0955-25G 25 g
EUR 70.00

DL-Methionine
GM2607-100G 100 g
EUR 44.00

DL-Methionine
GM2607-1KG 1 kg
EUR 94.00

DL-Methionine
GM2607-250G 250 g
EUR 53.00

DL-Methionine
GM2607-500G 500 g
EUR 66.00

DL-Methionine
GM2607-5KG 5 kg
EUR 229.00

DL-Valine
GM3274-100G 100 g
EUR 66.00

DL-Valine
GM3274-1KG 1 kg
EUR 261.00

DL-Valine
GM3274-250G 250 g
EUR 102.00

DL-Valine
GM3274-25G 25 g
EUR 46.00

DL-Valine
GM3274-500G 500 g
EUR 158.00

DL-Alanine
GM4363-100G 100 g
EUR 46.00

DL-Alanine
GM4363-1KG 1 kg
EUR 102.00

DL-Alanine
GM4363-250G 250 g
EUR 53.00

DL-Alanine
GM4363-25G 25 g
EUR 40.00

DL-Alanine
GM4363-500G 500 g
EUR 70.00

DL-Alanine
GM4363-5KG 5 kg
EUR 281.00

DL-Cystine
GM5088-1G 1 g
EUR 62.00

DL-Cystine
GM5088-5G 5 g
EUR 126.00

DL-Phenylalanine
GM5287-100G 100 g
EUR 78.00

DL-Phenylalanine
GM5287-1KG 1 kg
EUR 261.00

DL-Phenylalanine
GM5287-250G 250 g
EUR 110.00

DL-Phenylalanine
GM5287-25G 25 g
EUR 50.00

DL-Phenylalanine
GM5287-500G 500 g
EUR 166.00

DL-Histidine
GM6216-100G 100 g
EUR 245.00

DL-Histidine
GM6216-25G 25 g
EUR 110.00

DL-Histidine
GM6216-5G 5 g
EUR 58.00

DL-Cysteine
GM6393-1G 1 g
EUR 54.00

DL-Tyrosine
GM6469-100G 100 g
EUR 150.00

DL-Tyrosine
GM6469-10G 10 g
EUR 50.00

DL-Tyrosine
GM6469-250G 250 g
EUR 269.00

DL-Tyrosine
GM6469-25G 25 g
EUR 70.00

DL-Tyrosine
GM6469-50G 50 g
EUR 102.00

DL-Proline
GM7043-100G 100 g
EUR 309.00

DL-Proline
GM7043-1G 1 g
EUR 46.00

DL-Proline
GM7043-25G 25 g
EUR 142.00

DL-Proline
GM7043-5G 5 g
EUR 66.00

DL-Arginine
GM7749-25G 25 g
EUR 102.00

DL-Arginine
GM7749-5G 5 g
EUR 50.00

DL-Threonine
GM8351-100G 100 g
EUR 102.00

DL-Threonine
GM8351-250G 250 g
EUR 181.00

DL-Threonine
GM8351-25G 25 g
EUR 54.00

DL-Threonine
GM8351-500G 500 g
EUR 309.00

DL-Serine
GM9506-100G 100 g
EUR 62.00

DL-Serine
GM9506-1KG 1 kg
EUR 269.00

DL-Serine
GM9506-250G 250 g
EUR 106.00

DL-Serine
GM9506-500G 500 g
EUR 174.00

DL-Leucine
GM9742-100G 100 g
EUR 94.00

DL-Leucine
GM9742-250G 250 g
EUR 181.00

DL-Leucine
GM9742-25G 25 g
EUR 54.00

DL-Leucine
GM9742-50G 50 g
EUR 72.00

DL-Lysine
GM9803-1G 1 g
EUR 42.00

DL-Lysine
GM9803-5G 5 g
EUR 62.00

DL-Arabinose
GC1241-100G 100 g
EUR 309.00

DL-Arabinose
GC1241-25G 25 g
EUR 134.00

DL-Xylose
GC6865-5G 5 g
EUR 86.00

DL-Homocystine
HY-W009390 5g
EUR 119.00

DL-Norvaline
HY-W010510 5g
EUR 119.00

DL-Homocysteine
HY-W040821 10mM/1mL
EUR 126.00

DL-Serine
HY-Y0507 100mg
EUR 108.00

DL-Menthol
HY-Y1683 100mg
EUR 108.00

DL-Phosphinothricin
P034-1G 1 g
EUR 270.00

DL-Phosphinothricin
P034-250MG 250 mg
EUR 77.00

Leave a Comment

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