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.

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DL-Leucyl-DL-phenylalanine
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Rabbit anti-PIT1 Antibody
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Description: Signal recognition particle 9 kDa protein; SRP9

Rabbit anti-TCF12 Antibody
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Description: BHLHB20; HEB; HTF4; Transcription factor 12; TCF-12; Class B basic helix-loop-helix protein 20; bHLHb20; DNA-binding protein HTF4; E-box-binding protein; Transcription factor HTF-4

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DL97840A-100ul 100 ul
EUR 299
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DL97840A-50ul 50 ul
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Rabbit anti-STAM1 Antibody
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Description: STAM1; Signal transducing adapter molecule 1; STAM-1

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EUR 209.3
Description: STAM1; Signal transducing adapter molecule 1; STAM-1

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DL97844A-100ul 100 ul
EUR 299
Description: ISOT; Ubiquitin carboxyl-terminal hydrolase 5; Deubiquitinating enzyme 5; Isopeptidase T; Ubiquitin thioesterase 5; Ubiquitin-specific-processing protease 5

Rabbit anti-USP5 Antibody
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Rabbit anti-EIF3G Antibody
DL97845A-100ul 100 ul
EUR 299
Description: EIF3S4; Eukaryotic translation initiation factor 3 subunit G; eIF3g; Eukaryotic translation initiation factor 3 RNA-binding subunit; eIF-3 RNA-binding subunit; Eukaryotic translation initiation factor 3 subunit 4; eIF-3-delta; eIF3 p42; eIF3 p44

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DL97845A-50ul 50 ul
EUR 209.3
Description: EIF3S4; Eukaryotic translation initiation factor 3 subunit G; eIF3g; Eukaryotic translation initiation factor 3 RNA-binding subunit; eIF-3 RNA-binding subunit; Eukaryotic translation initiation factor 3 subunit 4; eIF-3-delta; eIF3 p42; eIF3 p44

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DL97846A-100ul 100 ul
EUR 299
Description: Vesicle-associated membrane protein 4; VAMP-4

Rabbit anti-VAMP4 Antibody
DL97846A-50ul 50 ul
EUR 209.3
Description: Vesicle-associated membrane protein 4; VAMP-4

Rabbit anti-SFRS9 Antibody
DL97847A-100ul 100 ul
EUR 325
Description: SFRS9; SRP30C; Serine/arginine-rich splicing factor 9; Pre-mRNA-splicing factor SRp30C; Splicing factor, arginine/serine-rich 9

Rabbit anti-SFRS9 Antibody
DL97847A-50ul 50 ul
EUR 227.5
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Rabbit anti-APPBP1 Antibody
DL97848A-100ul 100 ul
EUR 299
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Rabbit anti-APPBP1 Antibody
DL97848A-50ul 50 ul
EUR 209.3
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Rabbit anti-P4HA2 Antibody
DL97849A-100ul 100 ul
EUR 299
Description: Prolyl 4-hydroxylase subunit alpha-2; 4-PH alpha-2; Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-2

Rabbit anti-P4HA2 Antibody
DL97849A-50ul 50 ul
EUR 209.3
Description: Prolyl 4-hydroxylase subunit alpha-2; 4-PH alpha-2; Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-2

Rabbit anti-EIF1AY Antibody
DL97850A-100ul 100 ul
EUR 299
Description: Eukaryotic translation initiation factor 1A, Y-chromosomal; eIF-1A Y isoform; Eukaryotic translation initiation factor 4C; eIF-4C

Rabbit anti-EIF1AY Antibody
DL97850A-50ul 50 ul
EUR 209.3
Description: Eukaryotic translation initiation factor 1A, Y-chromosomal; eIF-1A Y isoform; Eukaryotic translation initiation factor 4C; eIF-4C

Rabbit anti-SNAP29 Antibody
DL97851A-100ul 100 ul
EUR 325
Description: Synaptosomal-associated protein 29; SNAP-29; Soluble 29 kDa NSF attachment protein; Vesicle-membrane fusion protein SNAP-29

Rabbit anti-SNAP29 Antibody
DL97851A-50ul 50 ul
EUR 227.5
Description: Synaptosomal-associated protein 29; SNAP-29; Soluble 29 kDa NSF attachment protein; Vesicle-membrane fusion protein SNAP-29

Rabbit anti-RPL23 Antibody
DL97852A-100ul 100 ul
EUR 299
Description: 60S ribosomal protein L23; 60S ribosomal protein L17

Rabbit anti-RPL23 Antibody
DL97852A-50ul 50 ul
EUR 209.3
Description: 60S ribosomal protein L23; 60S ribosomal protein L17

Rabbit anti-LONP1 Antibody
DL97853A-100ul 100 ul
EUR 299
Description: PRSS15; Lon protease homolog, mitochondrial; LONHs; Lon protease-like protein; LONP; Mitochondrial ATP-dependent protease Lon; Serine protease 15

Rabbit anti-LONP1 Antibody
DL97853A-50ul 50 ul
EUR 209.3
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Rabbit anti-EIF4E2 Antibody
DL97854A-100ul 100 ul
EUR 299
Description: EIF4EL3; Eukaryotic translation initiation factor 4E type 2; eIF-4E type 2; eIF4E type 2; Eukaryotic translation initiation factor 4E homologous protein; Eukaryotic translation initiation factor 4E-like 3; eIF4E-like protein 4E-LP; mRNA cap-binding protein 4EHP; mRNA cap-binding protein type 3

Rabbit anti-EIF4E2 Antibody
DL97854A-50ul 50 ul
EUR 209.3
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Rabbit anti-PMPCB Antibody
DL97855A-100ul 100 ul
EUR 325
Description: MPPB; Mitochondrial-processing peptidase subunit beta; Beta-MPP; P-52

Rabbit anti-PMPCB Antibody
DL97855A-50ul 50 ul
EUR 227.5
Description: MPPB; Mitochondrial-processing peptidase subunit beta; Beta-MPP; P-52

Rabbit anti-GS28 Antibody
DL97856A-100ul 100 ul
EUR 289
Description: GS28; Golgi SNAP receptor complex member 1; 28 kDa Golgi SNARE protein; 28 kDa cis-Golgi SNARE p28; GOS-28

Rabbit anti-GS28 Antibody
DL97856A-50ul 50 ul
EUR 202.3
Description: GS28; Golgi SNAP receptor complex member 1; 28 kDa Golgi SNARE protein; 28 kDa cis-Golgi SNARE p28; GOS-28

Rabbit anti-GS27 Antibody
DL97857A-100ul 100 ul
EUR 270
Description: GS27; Golgi SNAP receptor complex member 2; 27 kDa Golgi SNARE protein; Membrin

Rabbit anti-GS27 Antibody
DL97857A-50ul 50 ul
EUR 189
Description: GS27; Golgi SNAP receptor complex member 2; 27 kDa Golgi SNARE protein; Membrin

Rabbit anti-SAF-B2 Antibody
DL97858A-100ul 100 ul
EUR 325
Description: KIAA0138; Scaffold attachment factor B2; SAF-B2

Rabbit anti-SAF-B2 Antibody
DL97858A-50ul 50 ul
EUR 227.5
Description: KIAA0138; Scaffold attachment factor B2; SAF-B2

Rabbit anti-EIF4A3 Antibody
DL97859A-100ul 100 ul
EUR 325
Description: DDX48; KIAA0111; Eukaryotic initiation factor 4A-III; eIF-4A-III; eIF4A-III; ATP-dependent RNA helicase DDX48; ATP-dependent RNA helicase eIF4A-3; DEAD box protein 48; Eukaryotic initiation factor 4A-like NUK-34; Eukaryotic translation initiation factor 4A isoform 3; Nuclear matrix protein 265; NMP 265; hNMP 265

Rabbit anti-EIF4A3 Antibody
DL97859A-50ul 50 ul
EUR 227.5
Description: DDX48; KIAA0111; Eukaryotic initiation factor 4A-III; eIF-4A-III; eIF4A-III; ATP-dependent RNA helicase DDX48; ATP-dependent RNA helicase eIF4A-3; DEAD box protein 48; Eukaryotic initiation factor 4A-like NUK-34; Eukaryotic translation initiation factor 4A isoform 3; Nuclear matrix protein 265; NMP 265; hNMP 265

Rabbit anti-PIEZO1 Antibody
DL97860A-100ul 100 ul
EUR 270
Description: FAM38A; KIAA0233; Piezo-type mechanosensitive ion channel component 1; Membrane protein induced by beta-amyloid treatment; Mib; Protein FAM38A

Rabbit anti-PIEZO1 Antibody
DL97860A-50ul 50 ul
EUR 189
Description: FAM38A; KIAA0233; Piezo-type mechanosensitive ion channel component 1; Membrane protein induced by beta-amyloid treatment; Mib; Protein FAM38A

Rabbit anti-DHX38 Antibody
DL97861A-100ul 100 ul
EUR 299
Description: DDX38; KIAA0224; PRP16; Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16; ATP-dependent RNA helicase DHX38; DEAH box protein 38

Rabbit anti-DHX38 Antibody
DL97861A-50ul 50 ul
EUR 209.3
Description: DDX38; KIAA0224; PRP16; Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16; ATP-dependent RNA helicase DHX38; DEAH box protein 38

Rabbit anti-TOM70 Antibody
DL97862A-100ul 100 ul
EUR 299
Description: KIAA0719; TOM70; Mitochondrial import receptor subunit TOM70; Mitochondrial precursor proteins import receptor; Translocase of outer membrane 70 kDa subunit

Rabbit anti-TOM70 Antibody
DL97862A-50ul 50 ul
EUR 209.3
Description: KIAA0719; TOM70; Mitochondrial import receptor subunit TOM70; Mitochondrial precursor proteins import receptor; Translocase of outer membrane 70 kDa subunit

Rabbit anti-Harmonin Antibody
DL97863A-100ul 100 ul
EUR 325
Description: AIE75; Harmonin; Antigen NY-CO-38/NY-CO-37; Autoimmune enteropathy-related antigen AIE-75; Protein PDZ-73; Renal carcinoma antigen NY-REN-3; Usher syndrome type-1C protein

Rabbit anti-Harmonin Antibody
DL97863A-50ul 50 ul
EUR 227.5
Description: AIE75; Harmonin; Antigen NY-CO-38/NY-CO-37; Autoimmune enteropathy-related antigen AIE-75; Protein PDZ-73; Renal carcinoma antigen NY-REN-3; Usher syndrome type-1C protein

Rabbit anti-PQBP1 Antibody
DL97864A-100ul 100 ul
EUR 299
Description: NPW38; Polyglutamine-binding protein 1; PQBP-1; 38 kDa nuclear protein containing a WW domain; Npw38; Polyglutamine tract-binding protein 1

Rabbit anti-PQBP1 Antibody
DL97864A-50ul 50 ul
EUR 209.3
Description: NPW38; Polyglutamine-binding protein 1; PQBP-1; 38 kDa nuclear protein containing a WW domain; Npw38; Polyglutamine tract-binding protein 1

Rabbit anti-EDIL3 Antibody
DL97865A-100ul 100 ul
EUR 270
Description: DEL1; EGF-like repeat and discoidin I-like domain-containing protein 3; Developmentally-regulated endothelial cell locus 1 protein; Integrin-binding protein DEL1

Rabbit anti-EDIL3 Antibody
DL97865A-50ul 50 ul
EUR 189
Description: DEL1; EGF-like repeat and discoidin I-like domain-containing protein 3; Developmentally-regulated endothelial cell locus 1 protein; Integrin-binding protein DEL1

Rabbit anti-RCL1 Antibody
DL97866A-100ul 100 ul
EUR 299
Description: RNAC; RPC2; RPCL1; RTC2; RNA 3'-terminal phosphate cyclase-like protein

Rabbit anti-RCL1 Antibody
DL97866A-50ul 50 ul
EUR 209.3
Description: RNAC; RPC2; RPCL1; RTC2; RNA 3'-terminal phosphate cyclase-like protein

Rabbit anti-HRSP12 Antibody
DL97867A-100ul 100 ul
EUR 299
Description: PSP; Ribonuclease UK114; 14.5 kDa translational inhibitor protein; p14.5; Heat-responsive protein 12; UK114 antigen homolog

Rabbit anti-HRSP12 Antibody
DL97867A-50ul 50 ul
EUR 209.3
Description: PSP; Ribonuclease UK114; 14.5 kDa translational inhibitor protein; p14.5; Heat-responsive protein 12; UK114 antigen homolog

Rabbit anti-SAP18 Antibody
DL97868A-100ul 100 ul
EUR 325
Description: Histone deacetylase complex subunit SAP18; 18 kDa Sin3-associated polypeptide; 2HOR0202; Cell growth-inhibiting gene 38 protein; Sin3-associated polypeptide p18

Rabbit anti-SAP18 Antibody
DL97868A-50ul 50 ul
EUR 227.5
Description: Histone deacetylase complex subunit SAP18; 18 kDa Sin3-associated polypeptide; 2HOR0202; Cell growth-inhibiting gene 38 protein; Sin3-associated polypeptide p18

Rabbit anti-EIF3M Antibody
DL97869A-100ul 100 ul
EUR 325
Description: HFLB5; PCID1; Eukaryotic translation initiation factor 3 subunit M; eIF3m; Fetal lung protein B5; hFL-B5; PCI domain-containing protein 1

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