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1. WO2020221884 - RESIDUAL ENZYME ACTIVITY IN METABOLIC DISEASE

Publication Number WO/2020/221884
Publication Date 05.11.2020
International Application No. PCT/EP2020/062085
International Filing Date 30.04.2020
IPC
C12Q 1/6883 2018.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING 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
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68involving nucleic acids
6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
6883for diseases caused by alterations of genetic material
C12N 15/09 2006.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
15Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
09Recombinant DNA-technology
C12Q 1/25 2006.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING 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
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
25involving enzymes not classifiable in groups C12Q1/26-C12Q1/7097
CPC
C12Q 1/6883
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms
68involving nucleic acids
6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
6883for diseases caused by alterations of genetic material
C12Q 2600/156
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
2600Oligonucleotides characterized by their use
156Polymorphic or mutational markers
Applicants
  • UNIVERSITÄT HEIDELBERG [DE]/[DE]
Inventors
  • ZIELONKA, Matthias
  • POSSET, Roland
  • OKUN, Jürgen
  • KÖLKER, Stefan
Agents
  • ALTMANN STÖSSEL DICK PATENTANWÄLTE PARTG MBB
Priority Data
19172331.102.05.2019EP
Publication Language English (EN)
Filing Language English (EN)
Designated States
Title
(EN) RESIDUAL ENZYME ACTIVITY IN METABOLIC DISEASE
(FR) ACTIVITÉ ENZYMATIQUE RÉSIDUELLE DANS UNE MALADIE MÉTABOLIQUE
Abstract
(EN)
The present invention relates to a method for identifying a subject suffering from a severe form of a metabolic disease, comprising a) obtaining (i) at least partial nucleic acid sequences of at least two alleles of a gene contributing to said metabolic disease or at least partial amino acid sequences of the polypeptides expressed therefrom; and (ii) a residual activity of the polypeptides expressed from said at least two alleles, and b) based on the result of step a), identifying a subject suffering from a severe form of a metabolic disease; and to methods, data collections, devices, kit, and computer program products relates thereto.
(FR)
La présente invention concerne un procédé d'identification d'un sujet souffrant d'une forme grave d'une maladie métabolique, comprenant a) l'obtention (i) d'au moins des séquences d'acides nucléiques partielles d'au moins deux allèles d'un gène contribuant à ladite maladie métabolique ou au moins des séquences d'acides aminés partielles des polypeptides exprimés à partir de ces dernières; et (ii) d'une activité résiduelle des polypeptides exprimés à partir desdits au moins deux allèles, et b) sur la base du résultat de l'étape a), l'identification d'un sujet souffrant d'une forme grave d'une maladie métabolique; et des procédés, des collections de données, des dispositifs, un kit et des produits de programme informatique associés.
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