Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

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

21283-100ul 100ul
EUR 252

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
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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
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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

hsa-miR-627 Primers

MPH01927 150 ul / 10 uM
EUR 121

anti-Gab1 (Ab-627)

LF-PA20172 100 ul
EUR 334
Description: Rabbit polyclonal to Gab1

Gab1 (Ab-627) Conjugated Antibody

C21283 100ul
EUR 397

hsa-miR-627-3p Primers

MPH03390 150 ul / 10 uM
EUR 121

hsa-miR-627-5p Primers

MPH03391 150 ul / 10 uM
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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

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
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Zinc Finger Protein 627 (ZNF627) Antibody

20-abx306221
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hsa-miR-627-3p miRNA Inhibitor

MIH03273 2 x 5.0 nmol
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hsa-miR-627-5p miRNA Inhibitor

MIH03274 2 x 5.0 nmol
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hsa-miR-627-3p miRNA Antagomir

MNH03273 2 x 5.0 nmol
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hsa-miR-627-5p miRNA Antagomir

MNH03274 2 x 5.0 nmol
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Anti-STAT4 (aa 613-627) antibody

STJ72162 100 µg
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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]

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DL-Aminoglutethimide

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DL-AP4

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DL-AP7

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DL-AP5

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DL-AP5

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Description: DL-Epinephrine(DL-Adrenaline) is a hormone and a neurotransmitter.

DL-TBOA

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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
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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-Dithiothreitol

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EUR 299

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HY-107522 10mM/1mL
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DL-Glutamine

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DL-Lysine

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DL-Dopa

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DL-Pantolactone

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DL-Pantolactone

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DL-Menthol

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DL-Menthol

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DL-Thiorphan

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DL-Thiorphan

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DL-Tryptophan

GM0325-100G 100 g
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DL-Tryptophan

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DL-Tryptophan

GM0325-5G 5 g
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DL-Homoserine

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DL-Homoserine

GM0565-5G 5 g
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DL-Isoleucine

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DL-Isoleucine

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DL-Isoleucine

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DL-Methionine

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DL-Methionine

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DL-Methionine

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DL-Valine

GM3274-100G 100 g
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DL-Valine

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DL-Valine

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DL-Valine

GM3274-25G 25 g
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DL-Valine

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DL-Alanine

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DL-Alanine

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DL-Alanine

GM4363-250G 250 g
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DL-Alanine

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DL-Alanine

GM4363-500G 500 g
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DL-Alanine

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DL-Cystine

GM5088-1G 1 g
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DL-Cystine

GM5088-5G 5 g
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DL-Phenylalanine

GM5287-100G 100 g
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DL-Phenylalanine

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DL-Phenylalanine

GM5287-250G 250 g
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DL-Phenylalanine

GM5287-25G 25 g
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DL-Phenylalanine

GM5287-500G 500 g
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DL-Histidine

GM6216-100G 100 g
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DL-Histidine

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DL-Histidine

GM6216-5G 5 g
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DL-Cysteine

GM6393-1G 1 g
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DL-Tyrosine

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DL-Tyrosine

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DL-Tyrosine

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DL-Tyrosine

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DL-Tyrosine

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DL-Proline

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GM7043-1G 1 g
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DL-Proline

GM7043-25G 25 g
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DL-Proline

GM7043-5G 5 g
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DL-Arginine

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DL-Arginine

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DL-Threonine

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DL-Threonine

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DL-Threonine

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DL-Threonine

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DL-Serine

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DL-Serine

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DL-Serine

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DL-Serine

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DL-Leucine

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DL-Leucine

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DL-Leucine

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DL-Leucine

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DL-Lysine

GM9803-1G 1 g
EUR 42

DL-Lysine

GM9803-5G 5 g
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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-Arabinose

GC1241-100G 100 g
EUR 309

DL-Arabinose

GC1241-25G 25 g
EUR 134

DL-Xylose

GC6865-5G 5 g
EUR 86

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-Arginine

HY-N0454 100mg
EUR 108

DL-Borneol

HY-N1368 100mg
EUR 119

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-Cystine

20-abx184678
  • EUR 551.00
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  • EUR 203.00
  • 100 g
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DL-Isoleucine

20-abx184679
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DL-Panthenol

20-abx184680
  • EUR 286.00
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  • EUR 509.00
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DL-Valine

20-abx185402
  • EUR 495.00
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  • 1 kg
  • 500 g
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DL-Lysine

20-abx185976
  • EUR 286.00
  • EUR 203.00
  • 100 g
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DL-Dopa

abx187922-1000g 1000 g
EUR 718
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DL-Naproxen

20-abx182435
  • EUR 356.00
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  • EUR 203.00
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DL-AP3

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

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-Thiorphan

N-1195.0025 25.0mg
EUR 334
Description: Sum Formula: C12H15NO3S; CAS# [76721-89-6]

DL-Thiorphan

N-1195.0100 100.0mg
EUR 938
Description: Sum Formula: C12H15NO3S; CAS# [76721-89-6]

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