Biological Pathway Taxonomy

Last uploaded: March 30, 2022
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Id urn:agi-pathway:uuid-9662419c-8806-40b7-947d-2c6872258caa
urn:agi-pathway:uuid-9662419c-8806-40b7-947d-2c6872258caa
Preferred Name

MELAS Syndrome
Synonyms
PathwayType: signaling
Organ: pancreas
Link: https://mammal-profservices.pathwaystudio.com/app/sd?urn=urn:agi-pathway:uuid-9662419c-8806-40b7-947d-2c6872258caa
Organ_System: endocrine system
PMID: 15657614
CellType: insulin-secreting cell
Description: Pathway is built manually using published studies.
NodeType: Pathway
Pathway_Author: S. Sozin www.researchgate.net/profile/Sergey-Sozin
PMID: 24917879
Notes: Headnote: MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a form of mitochondrial cytopathy. MELAS is caused by mutations in genes of the mitochondrial electron transport chain and/or mitochondrial transfer RNAs. Signaling description: Normally, mitochondrial electron transport chain helps convert oxygen and simple sugars to energy in the form of ATP. Several of the genes affected in MELAS, including ND1, ND5, ND6, CYTB, and COX3, encode proteins of mitochondrial complexes I, III and IV. Mutations in these genes result in impaired oxidative phosphorylation system in mitochondria and then impaired insulin secretory capacity of pancreatic beta cells. Mutations in mitochondrial specific transfer RNA (TRNL1) cause more than 80% of all cases of MELAS. They impair the ability of mitochondria to make proteins, use oxygen, and produce energy. Mutations of other mitochondrial transfer RNA may be found in rare cases of MELAS (including TRNF, TRNV, TRNH, TRNQ, and others which are not included on the pathway).
Source: Diseases
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Type http://www.w3.org/2002/07/owl#Class

All Properties

label
MELAS Syndrome
prefLabel
MELAS Syndrome
database_cross_reference
PS:PathwayType
PS:Description
PS:Pathway_Author
PS:Link
PS:CellType
PS:Organ_System
PS:PMID
PS:NodeType
PS:Notes
PS:Organ
PS:Source
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notation
uuid-9662419c-8806-40b7-947d-2c6872258caa
id
urn:agi-pathway:uuid-9662419c-8806-40b7-947d-2c6872258caa
subClassOf
urn:agi-folder:mitochondria
urn:agi-folder:m
urn:agi-folder:endocrine_system
urn:agi-folder:diabetic_mellitus_syndromes
urn:agi-folder:melas_syndrome
type
has_exact_synonym
PathwayType: signaling
Organ: pancreas
Link: https://mammal-profservices.pathwaystudio.com/app/sd?urn=urn:agi-pathway:uuid-9662419c-8806-40b7-947d-2c6872258caa
Organ_System: endocrine system
PMID: 15657614
CellType: insulin-secreting cell
Description: Pathway is built manually using published studies.
NodeType: Pathway
Pathway_Author: S. Sozin www.researchgate.net/profile/Sergey-Sozin
PMID: 24917879
Notes: Headnote: MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a form of mitochondrial cytopathy. MELAS is caused by mutations in genes of the mitochondrial electron transport chain and/or mitochondrial transfer RNAs. Signaling description: Normally, mitochondrial electron transport chain helps convert oxygen and simple sugars to energy in the form of ATP. Several of the genes affected in MELAS, including ND1, ND5, ND6, CYTB, and COX3, encode proteins of mitochondrial complexes I, III and IV. Mutations in these genes result in impaired oxidative phosphorylation system in mitochondria and then impaired insulin secretory capacity of pancreatic beta cells. Mutations in mitochondrial specific transfer RNA (TRNL1) cause more than 80% of all cases of MELAS. They impair the ability of mitochondria to make proteins, use oxygen, and produce energy. Mutations of other mitochondrial transfer RNA may be found in rare cases of MELAS (including TRNF, TRNV, TRNH, TRNQ, and others which are not included on the pathway).
Source: Diseases
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urn:agi-folder:mitochondria
urn:agi-folder:m
urn:agi-folder:endocrine_system
urn:agi-folder:diabetic_mellitus_syndromes
urn:agi-folder:melas_syndrome
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