Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1985 1
1988 1
1989 1
1994 2
1996 1
2000 4
2001 3
2002 2
2003 2
2008 3
2009 3
2010 2
2011 1
2012 4
2013 3
2014 1
2017 1
2018 2
2020 1
2021 2
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

37 results

Results by year

Filters applied: . Clear all
Page 1
Mitochondrial Dysfunction in Kidney Tubulopathies.
Hoogstraten CA, Hoenderop JG, de Baaij JHF. Hoogstraten CA, et al. Annu Rev Physiol. 2024 Feb 12;86:379-403. doi: 10.1146/annurev-physiol-042222-025000. Epub 2023 Nov 27. Annu Rev Physiol. 2024. PMID: 38012047 Free article. Review.
In addition, mitochondrial cytopathies often affect renal (tubular) tissues, such as in Kearns-Sayre and Leigh syndromes. Nevertheless, the mechanisms by which mitochondrial dysfunction results in renal tubular diseases are only scarcely being explored. ...
In addition, mitochondrial cytopathies often affect renal (tubular) tissues, such as in Kearns-Sayre and Leigh syndromes. Nevertheles …
The heart in m.3243A>G carriers.
Finsterer J, Zarrouk-Mahjoub S. Finsterer J, et al. Herz. 2020 Jun;45(4):356-361. doi: 10.1007/s00059-018-4739-6. Epub 2018 Aug 20. Herz. 2020. PMID: 30128910 Review. English.
RESULTS: The m.3243A>G variant may manifest phenotypically as mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), myoclonic epilepsy with ragged red fiber (MERRF), Leigh syndrome, or …
RESULTS: The m.3243A>G variant may manifest phenotypically as mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (ME …
Gene of the month: SDH.
Aldera AP, Govender D. Aldera AP, et al. J Clin Pathol. 2018 Feb;71(2):95-97. doi: 10.1136/jclinpath-2017-204677. Epub 2017 Oct 25. J Clin Pathol. 2018. PMID: 29070651 Review.
Succinate dehydrogenase (SDH) is a heterotetrameric nuclear encoded mitochondrial protein complex which plays a role in the citric acid cycle and the electron transfer chain. Germline mutations in SDHA are associated with Leigh syndrome. Mutations in SDHB, SDHC and …
Succinate dehydrogenase (SDH) is a heterotetrameric nuclear encoded mitochondrial protein complex which plays a role in the citric acid cycl …
Leigh and Leigh-like syndrome in children and adults.
Finsterer J. Finsterer J. Pediatr Neurol. 2008 Oct;39(4):223-35. doi: 10.1016/j.pediatrneurol.2008.07.013. Pediatr Neurol. 2008. PMID: 18805359 Review.
Clinically, Leigh syndrome is characterized by a wide variety of abnormalities, from severe neurologic problems to a near absence of abnormalities. ...Leigh syndrome and Leigh-like syndrome are the mitochondrial disorders with the largest …
Clinically, Leigh syndrome is characterized by a wide variety of abnormalities, from severe neurologic problems to a near abse …
Lipoic acid biosynthesis defects.
Mayr JA, Feichtinger RG, Tort F, Ribes A, Sperl W. Mayr JA, et al. J Inherit Metab Dis. 2014 Jul;37(4):553-63. doi: 10.1007/s10545-014-9705-8. Epub 2014 Apr 29. J Inherit Metab Dis. 2014. PMID: 24777537 Review.
Mutations in LIAS have been identified that result in a variant form of nonketotic hyperglycinemia with early-onset convulsions combined with a defect in mitochondrial energy metabolism with encephalopathy and cardiomyopathy. LIPT1 deficiency spares the GCS, and resulted i …
Mutations in LIAS have been identified that result in a variant form of nonketotic hyperglycinemia with early-onset convulsions combined wit …
Mitochondrial cytopathies.
Schmiedel J, Jackson S, Schäfer J, Reichmann H. Schmiedel J, et al. J Neurol. 2003 Mar;250(3):267-77. doi: 10.1007/s00415-003-0978-3. J Neurol. 2003. PMID: 12638015 Review.
They are caused either by mutations in the maternally inherited mitochondrial genome, or by nuclear DNA-mutations. Today, approximately 200 different disease causing mutations of mitochondrial DNA (mtDNA) are known, and due to the increased knowledge about nuclear genetics …
They are caused either by mutations in the maternally inherited mitochondrial genome, or by nuclear DNA-mutations. Today, approximately 200 …
Mitochondrial DNA disorders.
Naviaux RK. Naviaux RK. Eur J Pediatr. 2000 Dec;159 Suppl 3:S219-26. doi: 10.1007/pl00014407. Eur J Pediatr. 2000. PMID: 11216904 Review.
About 60% of the point mutations affect mitochondrial tRNAs, 35% affect polypeptide subunits of the respiratory chain, and 5% affect mitochondrial ribosomal RNAs. The clinical phenotypes of mitochondrial tRNA disease span the spectrum of all known oxidative phosphorylation …
About 60% of the point mutations affect mitochondrial tRNAs, 35% affect polypeptide subunits of the respiratory chain, and 5% affect mitocho …
Mitochondrial disorders.
Edmond JC. Edmond JC. Int Ophthalmol Clin. 2009 Summer;49(3):27-33. doi: 10.1097/IIO.0b013e3181a8de58. Int Ophthalmol Clin. 2009. PMID: 19584620 Review. No abstract available.
MICOS and the mitochondrial inner membrane morphology - when things get out of shape.
Mukherjee I, Ghosh M, Meinecke M. Mukherjee I, et al. FEBS Lett. 2021 Apr;595(8):1159-1183. doi: 10.1002/1873-3468.14089. FEBS Lett. 2021. PMID: 33837538 Free article. Review.
Mitochondrial dysfunction and abnormalities hallmark several human conditions and diseases including neurodegeneration, cardiomyopathies and diabetes mellitus. Yet, they have long been regarded as secondary pathological effects. This review discusses emerging evidence of a …
Mitochondrial dysfunction and abnormalities hallmark several human conditions and diseases including neurodegeneration, cardiomyopathies …
Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).
Pastores GM, Santorelli FM, Shanske S, Gelb BD, Fyfe B, Wolfe D, Willner JP. Pastores GM, et al. Am J Med Genet. 1994 Apr 15;50(3):265-71. doi: 10.1002/ajmg.1320500310. Am J Med Genet. 1994. PMID: 8042671 Review.
Mutation of mitochondrial (mt) DNA at nucleotide (nt) 8993 has been reported to cause neurogenic weakness, ataxia, retinitis pigmentosa (NARP), or Leigh syndrome (LS). We report a family in whom the mutation was expressed clinically as LS and hypertrophic cardiom …
Mutation of mitochondrial (mt) DNA at nucleotide (nt) 8993 has been reported to cause neurogenic weakness, ataxia, retinitis pigmentosa (NAR …
37 results