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 Custom Filters

Edit custom filters

Results by year

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

Year Number of Results
2010 2
2011 1
2012 1
2013 1
2014 4
2015 1
2016 2
2017 8
2018 3
2019 2
2020 2
2021 2
2022 6
2023 5
2024 12
2025 7
2026 3

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

54 results

Results by year

Filters applied: . Clear all
Page 1
ROS transfer at peroxisome-mitochondria contact regulates mitochondrial redox.
DiGiovanni LF, Khroud PK, Carmichael RE, Schrader TA, Gill SK, Germain K, Jomphe RY, Wiesinger C, Boutry M, Kamoshita M, Snider D, Stubbings G, Hua R, Garber N, Hacker C, Rutenberg AD, Melnyk RA, Berger J, Schrader M, Raught B, Kim PK. DiGiovanni LF, et al. Science. 2025 Jul 10;389(6756):157-162. doi: 10.1126/science.adn2804. Epub 2025 Jul 10. Science. 2025. PMID: 40638754
We found a direct role for peroxisomes in maintaining mitochondrial redox homeostasis through contact-mediated reactive oxygen species (ROS) transfer. We found that ACBD5 and PTPIP51 form a contact between peroxisomes and mitochondria. The percentage of these contacts incr …
We found a direct role for peroxisomes in maintaining mitochondrial redox homeostasis through contact-mediated reactive oxygen species (ROS) …
The neurological pathology of peroxisomal ACBD5 deficiency - lessons from patients and mouse models.
Dawes ML, Haberlander JP, Islinger M, Schrader M. Dawes ML, et al. Front Mol Neurosci. 2025 Jul 2;18:1602343. doi: 10.3389/fnmol.2025.1602343. eCollection 2025. Front Mol Neurosci. 2025. PMID: 40672445 Free PMC article. Review.
The absence or dysfunction of the peroxisomal membrane protein Acyl-CoA Binding Domain-Containing Protein 5 (ACBD5) is the cause of the most recently discovered peroxisomal disorder "Retinal Dystrophy with Leukodystrophy" (RDLKD). ACBD5 is a tail-anchored protein, a …
The absence or dysfunction of the peroxisomal membrane protein Acyl-CoA Binding Domain-Containing Protein 5 (ACBD5) is the cause of t …
ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism.
Ferdinandusse S, Falkenberg KD, Koster J, Mooyer PA, Jones R, van Roermund CWT, Pizzino A, Schrader M, Wanders RJA, Vanderver A, Waterham HR. Ferdinandusse S, et al. J Med Genet. 2017 May;54(5):330-337. doi: 10.1136/jmedgenet-2016-104132. Epub 2016 Oct 31. J Med Genet. 2017. PMID: 27799409
In addition, a role for ACBD5 in pexophagy has been suggested. However, the precise role of ACBD5 in peroxisomal metabolism and/or functioning has not yet been established. ...We identified a pathogenic mutation in ACBD5 in another patient and studied the con …
In addition, a role for ACBD5 in pexophagy has been suggested. However, the precise role of ACBD5 in peroxisomal metabolism an …
Differential roles for ACBD4 and ACBD5 in peroxisome-ER interactions and lipid metabolism.
Costello JL, Koster J, Silva BSC, Worthy HL, Schrader TA, Hacker C, Passmore J, Kuypers FA, Waterham HR, Schrader M. Costello JL, et al. J Biol Chem. 2023 Aug;299(8):105013. doi: 10.1016/j.jbc.2023.105013. Epub 2023 Jul 4. J Biol Chem. 2023. PMID: 37414147 Free PMC article.
Here, we address these questions using a combination of molecular cell biology, biochemical, and lipidomics analyses following loss of ACBD4 or ACBD5 in HEK293 cells. We show that the tethering function of ACBD5 is not absolutely required for efficient peroxisomal b …
Here, we address these questions using a combination of molecular cell biology, biochemical, and lipidomics analyses following loss of ACBD4 …
A Novel Homozygous ACBD5 Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature.
Hasturk BA, Cinar Ç, Zubarioglu T, Tiryaki-Demir S, Cansever MS, Kiykim E, Kalaycı Yigin A, Yalcinkaya C, Aktuglu-Zeybek C. Hasturk BA, et al. Mol Syndromol. 2024 Jun;15(3):232-239. doi: 10.1159/000535534. Epub 2024 Jan 25. Mol Syndromol. 2024. PMID: 38841324 Free PMC article.
Clinical exome sequencing displayed a novel homozygous intronic splice site variant (c.936 + 2T>G) in the ACBD5 (NM_145698.5) gene. CONCLUSION: With this report, a novel variant in ACBD5 deficiency was described. Macular dystrophy was demonstrated with optical co …
Clinical exome sequencing displayed a novel homozygous intronic splice site variant (c.936 + 2T>G) in the ACBD5 (NM_145698.5) gene …
Variables in the ACBD5 Gene Leading to Distinct Phenotypes: A Case Report.
Pappaterra-Rodriguez MC, Muns SM, Ayala Rodríguez SC, Requejo Figueroa GA, Izquierdo N, Oliver AL. Pappaterra-Rodriguez MC, et al. Cureus. 2022 Dec 25;14(12):e32930. doi: 10.7759/cureus.32930. eCollection 2022 Dec. Cureus. 2022. PMID: 36699790 Free PMC article.
Sequencing analysis showed that he carried seven VUS in five genes: ACBD5 c.431G>A (p.Gly144Asp), CYP4V2 c.296T>C (p.Met99Thr), EYS c.1852G>A (p.Gly618Ser), HMCN1 c.280G>A (p.Val94Met), HMCN1 c.8939A>C (p.Asn2980Thr), RP1L1 c.575C>A (p.Pro192His), and RP1 …
Sequencing analysis showed that he carried seven VUS in five genes: ACBD5 c.431G>A (p.Gly144Asp), CYP4V2 c.296T>C (p.Met99Thr), …
Newly defined peroxisomal disease with novel ACBD5 mutation.
Gorukmez O, Havalı C, Gorukmez O, Dorum S. Gorukmez O, et al. J Pediatr Endocrinol Metab. 2021 Oct 20;35(1):11-18. doi: 10.1515/jpem-2020-0352. Print 2022 Jan 27. J Pediatr Endocrinol Metab. 2021. PMID: 34668366
One of the genetic disorders known to cause this situation is ACBD5 (Acyl-CoA binding-domain-containing-5) gene mutations that have been described in recent years. Here, we report two siblings with a novel homozygous nonsense variation (c.1297C>T, p.Arg433*) in ACBD5 …
One of the genetic disorders known to cause this situation is ACBD5 (Acyl-CoA binding-domain-containing-5) gene mutations that have b …
Local accumulation of very long-chain PUFA in plexiform layers associates with retinal dysfunction in a mouse model of peroxisomal ACBD5-deficiency.
Merz J, Müller E, Darwisch W, Fairless R, Wang Y, Vorwald S, Darwisch S, Curticean ER, Shao F, Wacker I, Schröder RR, Pitzer C, Schultz C, van Klinken JB, Vaz FM, Kratzer F, Schwarz K, Okun JG, Feng Y, Hopf C, Islinger M. Merz J, et al. Cell Mol Life Sci. 2025 Dec 1;83(1):26. doi: 10.1007/s00018-025-05971-8. Cell Mol Life Sci. 2025. PMID: 41324649 Free PMC article.
Patients deficient in the peroxisomal membrane protein ACBD5 regularly exhibit a dystrophy of the retina along with decline in visual acuity. ...Hence, peroxisomal dysfunction appears to affect cell type-specific lipid homeostasis, thereby disrupting local retinal membrane …
Patients deficient in the peroxisomal membrane protein ACBD5 regularly exhibit a dystrophy of the retina along with decline in visual …
Ataxia with giant axonopathy in Acbd5-deficient mice halted by adeno-associated virus gene therapy.
Granadeiro L, Zarralanga VE, Rosa R, Franquinho F, Lamas S, Brites P. Granadeiro L, et al. Brain. 2024 Apr 4;147(4):1457-1473. doi: 10.1093/brain/awad407. Brain. 2024. PMID: 38066620 Free article.
Acyl-CoA binding domain containing 5 (ACBD5) is a critical player in handling very long chain fatty acids (VLCFA) en route for peroxisomal beta-oxidation. Mutations in ACBD5 lead to the accumulation of VLCFA and patients present retinal dystrophy, ataxia, psychomoto …
Acyl-CoA binding domain containing 5 (ACBD5) is a critical player in handling very long chain fatty acids (VLCFA) en route for peroxi …
Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis.
Darwisch W, von Spangenberg M, Lehmann J, Singin Ö, Deubert G, Kühl S, Roos J, Horstmann H, Körber C, Hoppe S, Zheng H, Kuner T, Pras-Raves ML, van Kampen AHC, Waterham HR, Schwarz KV, Okun JG, Schultz C, Vaz FM, Islinger M. Darwisch W, et al. Commun Biol. 2020 Nov 26;3(1):713. doi: 10.1038/s42003-020-01442-x. Commun Biol. 2020. PMID: 33244184 Free PMC article.
ACBD5 deficiency is a novel peroxisome disorder with a largely uncharacterized pathology. ...An ACBD5-deficient mouse was analyzed to correlate ACBD5 tethering functions with the disease phenotype. ...
ACBD5 deficiency is a novel peroxisome disorder with a largely uncharacterized pathology. ...An ACBD5-deficient mouse was anal …
54 results