JP4703008B2 - 被験体におけるリソソーム貯蔵障害の診断またはモニターのために少なくとも1つのサポシンのレベルを使用する方法 - Google Patents

被験体におけるリソソーム貯蔵障害の診断またはモニターのために少なくとも1つのサポシンのレベルを使用する方法 Download PDF

Info

Publication number
JP4703008B2
JP4703008B2 JP2000605213A JP2000605213A JP4703008B2 JP 4703008 B2 JP4703008 B2 JP 4703008B2 JP 2000605213 A JP2000605213 A JP 2000605213A JP 2000605213 A JP2000605213 A JP 2000605213A JP 4703008 B2 JP4703008 B2 JP 4703008B2
Authority
JP
Japan
Prior art keywords
disease
saposin
level
mps
lysosomal storage
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Expired - Fee Related
Application number
JP2000605213A
Other languages
English (en)
Japanese (ja)
Other versions
JP2002539455A5 (enExample
JP2002539455A (ja
Inventor
ピーター ジョン メイクル,
ジョン ジョセフ ホップウッド,
ブライアン ゴードン ウィンチェスター,
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Children Youth and Womens Health Service Inc
Original Assignee
Children Youth and Womens Health Service Inc
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Children Youth and Womens Health Service Inc filed Critical Children Youth and Womens Health Service Inc
Priority claimed from PCT/AU2000/000193 external-priority patent/WO2000055632A1/en
Publication of JP2002539455A publication Critical patent/JP2002539455A/ja
Publication of JP2002539455A5 publication Critical patent/JP2002539455A5/ja
Application granted granted Critical
Publication of JP4703008B2 publication Critical patent/JP4703008B2/ja
Anticipated expiration legal-status Critical
Expired - Fee Related legal-status Critical Current

Links

Images

Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/34Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving hydrolase
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/53Immunoassay; Biospecific binding assay; Materials therefor
    • G01N33/573Immunoassay; Biospecific binding assay; Materials therefor for enzymes or isoenzymes
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2333/00Assays involving biological materials from specific organisms or of a specific nature
    • G01N2333/435Assays involving biological materials from specific organisms or of a specific nature from animals; from humans
    • G01N2333/475Assays involving growth factors
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2333/00Assays involving biological materials from specific organisms or of a specific nature
    • G01N2333/435Assays involving biological materials from specific organisms or of a specific nature from animals; from humans
    • G01N2333/705Assays involving receptors, cell surface antigens or cell surface determinants
    • G01N2333/70596Molecules with a "CD"-designation not provided for elsewhere in G01N2333/705
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2333/00Assays involving biological materials from specific organisms or of a specific nature
    • G01N2333/90Enzymes; Proenzymes
    • G01N2333/914Hydrolases (3)
    • G01N2333/924Hydrolases (3) acting on glycosyl compounds (3.2)

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Biomedical Technology (AREA)
  • Microbiology (AREA)
  • Urology & Nephrology (AREA)
  • Biotechnology (AREA)
  • Wood Science & Technology (AREA)
  • Hematology (AREA)
  • Physics & Mathematics (AREA)
  • Zoology (AREA)
  • Biochemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Pathology (AREA)
  • General Physics & Mathematics (AREA)
  • Biophysics (AREA)
  • Medicinal Chemistry (AREA)
  • Food Science & Technology (AREA)
  • Cell Biology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
JP2000605213A 1999-03-17 2000-03-17 被験体におけるリソソーム貯蔵障害の診断またはモニターのために少なくとも1つのサポシンのレベルを使用する方法 Expired - Fee Related JP4703008B2 (ja)

Applications Claiming Priority (6)

Application Number Priority Date Filing Date Title
US12486499P 1999-03-17 1999-03-17
US60/124,864 1999-03-17
GBGB9908190.3A GB9908190D0 (en) 1999-04-09 1999-04-09 Diagnosis of lysosomal storage disorders using saposins and other markers
GB9908190.3 1999-04-09
GB60/124,864 1999-04-09
PCT/AU2000/000193 WO2000055632A1 (en) 1999-03-17 2000-03-17 Diagnosis of lysosomal storage disorders using saposins and other markers

Related Child Applications (1)

Application Number Title Priority Date Filing Date
JP2010049695A Division JP2010139511A (ja) 1999-03-17 2010-03-05 サポシンおよび他のマーカーを用いるリソソーム貯蔵障害の診断

Publications (3)

Publication Number Publication Date
JP2002539455A JP2002539455A (ja) 2002-11-19
JP2002539455A5 JP2002539455A5 (enExample) 2007-05-10
JP4703008B2 true JP4703008B2 (ja) 2011-06-15

Family

ID=10851273

Family Applications (1)

Application Number Title Priority Date Filing Date
JP2000605213A Expired - Fee Related JP4703008B2 (ja) 1999-03-17 2000-03-17 被験体におけるリソソーム貯蔵障害の診断またはモニターのために少なくとも1つのサポシンのレベルを使用する方法

Country Status (2)

Country Link
JP (1) JP4703008B2 (enExample)
GB (1) GB9908190D0 (enExample)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2010139511A (ja) * 1999-03-17 2010-06-24 Children Youth & Women's Health Service Inc サポシンおよび他のマーカーを用いるリソソーム貯蔵障害の診断

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP4833831B2 (ja) * 2003-03-31 2011-12-07 ウイミンズ、アンド、チルドランズ、ホスピトル リソソーム蓄積症(lds)の多重スクリーニング
ES2731920T3 (es) * 2013-05-14 2019-11-19 Centogene Ag Método para el diagnóstico de la enfermedad de Niemann-Pick

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2010139511A (ja) * 1999-03-17 2010-06-24 Children Youth & Women's Health Service Inc サポシンおよび他のマーカーを用いるリソソーム貯蔵障害の診断

Also Published As

Publication number Publication date
GB9908190D0 (en) 1999-06-02
JP2002539455A (ja) 2002-11-19

Similar Documents

Publication Publication Date Title
Chuang et al. Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan
JP5301719B2 (ja) リソソーム病の検出方法
JP3510902B2 (ja) アミロイド前駆体タンパク質のタンパク質分解に基づいてのアルツハイマー病についての診断アッセイ
US20040166554A1 (en) Method for assaying the activity of lysosomal enzymes
JP2010139511A (ja) サポシンおよび他のマーカーを用いるリソソーム貯蔵障害の診断
Gheldof et al. Clinical implementation of gene panel testing for lysosomal storage diseases
JP2009529885A (ja) リソソーム酵素に対する抗体の検出のためのアッセイ
JP2004501365A (ja) ポンペ病および他のグリコーゲン貯蔵病のため診断方法
JP2001519894A (ja) リソソーム蓄積症の早期検出法
Caciotti et al. Morquio B disease: From pathophysiology towards diagnosis
JP4703008B2 (ja) 被験体におけるリソソーム貯蔵障害の診断またはモニターのために少なくとも1つのサポシンのレベルを使用する方法
US7378231B1 (en) Diagnosis of lysosomal storage disorders using saposins and other markers
Yuan et al. Proteomic approaches in the discovery of potential urinary biomarkers of mucopolysaccharidosis type II
JP2016506501A (ja) 異染性白質ジストロフィーの診断方法
Jezela‐Stanek et al. Maternal urinary steroid profiles in prenatal diagnosis of Smith–Lemli–Opitz syndrome: first patient series comparing biochemical and molecular studies
US7361481B2 (en) Diagnosis of lysosomal storage disorders using saposins and other markers
JP6989872B2 (ja) 先天性代謝異常症6疾患の同時スクリーニング検査法
Winchester Laboratory diagnosis of lysosomal storage diseases
KR101159516B1 (ko) 동맥 혈전증에 대한 위험 인자로서 인자 ⅶ-활성화프로테아제(fsap)의 마르부르그 ⅰ 돌연변이체
US11262348B2 (en) Cell-based assays for detection of antibodies or other factors that neutralize uptake of lysosomal enzymes
Işman et al. Cerebrospinal fluid and serum chitotriosidase levels in patients with aneurysmal subarachnoid haemorrhage: preliminary results
Winchester et al. Laboratory Diagnosis and Monitoring of Lysosomal Storage Diseases
Pradeep et al. A Brief Insights on Gauchers Disease
CN109868311A (zh) Mif及其预测二代抗精神病药物诱导的代谢不良反应的应用
CN120703287A (zh) 基于uplc-ms/ms检测溶酶体贮积症相关生物标志物的复合标记物和方法

Legal Events

Date Code Title Description
A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20070313

A621 Written request for application examination

Free format text: JAPANESE INTERMEDIATE CODE: A621

Effective date: 20070313

A977 Report on retrieval

Free format text: JAPANESE INTERMEDIATE CODE: A971007

Effective date: 20091126

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20091208

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20100305

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20100902

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20101013

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20101102

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20110202

A01 Written decision to grant a patent or to grant a registration (utility model)

Free format text: JAPANESE INTERMEDIATE CODE: A01

Effective date: 20110224

A61 First payment of annual fees (during grant procedure)

Free format text: JAPANESE INTERMEDIATE CODE: A61

Effective date: 20110308

LAPS Cancellation because of no payment of annual fees