NDLI: The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients

Please wait, while we are loading the content...

The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients

Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1

Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria

Change of bone mass in postmenopausal Caucasian women with and without hormone replacement therapy is associated with vitamin D receptor and estrogen receptor genotypes

Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndrome

Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes

Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q

Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family

Molecular characterization of phenylketonuria in Japanese patients

Identification of de novo chromosomal markers and derivatives by spectral karyotyping

FRAXE : the HindIII/OXE20 restriction polymorphism is not a rare variant

The origins of Native Americans: evidence from anthropological genetics: Michael H. Crawford Cambridge University Press (308

Principles of molecular medicine: J. Larry Jameson (Editor) Humana Press (1156

Mental disorders and genetics: the ethical context. Nuffield Council on Bioethics – 1998 Nuffield Council on Bioethics, 28 Bedford Square, London WC 1 3EG, UK (http:/www.nuffield.org),(117

Human Genetics : Volume 103, Issue 4, November 1998

Human Genetics : Volume 103, Issue 3, September 1998

Human Genetics : Volume 103, Issue 2, September 1998

Human Genetics : Volume 103, Issue 1, July 1998

Human Genetics : Volume 102

Human Genetics : Volume 101

Human Genetics : Volume 100

Human Genetics : Volume 99

The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients

Content Provider	Springer Nature Link
Author	Triepels, Ralf van den Heuvel, L. Loeffen, J. Smeets, Roel Trijbels, Frans Smeitink, Jan
Copyright Year	1998
Abstract	We report the cloning of the cDNA sequence of the nuclear-encoded NDUFA8 subunit of NADH: ubiquinone oxidoreductase, the first mitochondrial respiratory chain complex. The NDUFA8 open reading frame (ORF) includes 519 bp and encodes 172 amino acids (Mr=20.1 kDa). The human cDNA sequence shows 86.2% identity with the bovine sequence, whereas the human NDUFA8 amino acid sequence is 87.8% similar to its bovine PGIV protein counterpart. Both human and bovine NDUFA8 contain a conserved cysteine motif. Polymerase chain reaction analysis of rodent/human somatic cell hybrids maps the human NDUFA8 gene to chromosome 9. A multiple tissue blot has revealed the highest NDUFA8 mRNA expression in human heart, skeletal muscle, and fetal heart. Mutation analysis of the NDUFA8 fibroblast cDNA in 20 patients with an isolated enzymatic complex I deficiency in cultured skin fibroblasts has revealed two polymorphisms, one within the ORF and the other in the 3’ untranslated region of the NDUFA8 cDNA sequence. The allelic frequency of both polymorphisms was similar in controls and complex-I-deficient patients.
Starting Page	557
Ending Page	563
Page Count	7
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	103
Issue Number	5
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	1998-11-26
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Cloning of the human cDNA sequence encoding the NADH: Ubiquinone oxidoreductase MLRQ subunit

Cloning and sequence analysis of the gene encoding 19-kD subunit of Complex I from Dunaliella salina

cDNA cloning, tissue distribution and chromosomal localization of the human ID4 gene.

cDNA Cloning, Tissue Distribution and Chromosomal Localization of the Human ID4 Gene

Transmembrane topology of subunit N of complex I (NADH:ubiquinone oxidoreductase) from Escherichia coli

CDNA cloning, expression and chromosomal localization of the murine AF-4 gene involved in human leukemia

Submitochondrial fragments of brain mitochondria: General characteristics and catalytic properties of NADH:ubiquinone oxidoreductase (Complex I)

The subunit composition of mitochondrial NADH:ubiquinone oxidoreductase (complex I) fromPichia pastoris (2010)

A JOURNAL OF NEUROLOGY The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families (1093)

The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients

Similar Documents

Cloning of the human cDNA sequence encoding the NADH: Ubiquinone oxidoreductase MLRQ subunit

Cloning and sequence analysis of the gene encoding 19-kD subunit of Complex I from Dunaliella salina

cDNA cloning, tissue distribution and chromosomal localization of the human ID4 gene.

cDNA Cloning, Tissue Distribution and Chromosomal Localization of the Human ID4 Gene

Transmembrane topology of subunit N of complex I (NADH:ubiquinone oxidoreductase) from Escherichia coli

CDNA cloning, expression and chromosomal localization of the murine AF-4 gene involved in human leukemia

Submitochondrial fragments of brain mitochondria: General characteristics and catalytic properties of NADH:ubiquinone oxidoreductase (Complex I)

The subunit composition of mitochondrial NADH:ubiquinone oxidoreductase (complex I) fromPichia pastoris (2010)

A JOURNAL OF NEUROLOGY The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families (1093)

The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients