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

Results by year

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

Year Number of Results
2016 4
2017 4
2019 1
2020 1
2021 4
2022 1
2023 1
2024 1
2025 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

16 results

Results by year

Filters applied: . Clear all
Page 1
The lysosomal protein ABCD4 can transport vitamin B(12) across liposomal membranes in vitro.
Kitai K, Kawaguchi K, Tomohiro T, Morita M, So T, Imanaka T. Kitai K, et al. J Biol Chem. 2021 Jan-Jun;296:100654. doi: 10.1016/j.jbc.2021.100654. Epub 2021 May 3. J Biol Chem. 2021. PMID: 33845046 Free PMC article.
We previously demonstrated that LMBD1 is required for the translocation of ABCD4 from the endoplasmic reticulum to lysosomes. This suggests that ABCD4 performs an important function in lysosomal membrane cobalamin transport. In this study, we expressed human ABCD …
We previously demonstrated that LMBD1 is required for the translocation of ABCD4 from the endoplasmic reticulum to lysosomes. This su …
Analgesia and Opioids: A Pharmacogenetics Shortlist for Implementation in Clinical Practice.
Matic M, de Wildt SN, Tibboel D, van Schaik RHN. Matic M, et al. Clin Chem. 2017 Jul;63(7):1204-1213. doi: 10.1373/clinchem.2016.264986. Clin Chem. 2017. PMID: 28637770 Review.
From these genes, we evaluated the evidence and selected the most promising 10 markers: cytochrome P450 family 2 subfamily D member 6 (CYP2D6), cytochrome P450 family 3 subfamily A member 4 (CYP3A4), cytochrome P450 family 3 subfamily A m …
From these genes, we evaluated the evidence and selected the most promising 10 markers: cytochrome P450 family 2 subfamily D m …
Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.
Kawaguchi K, Okamoto T, Morita M, Imanaka T. Kawaguchi K, et al. Sci Rep. 2016 Jul 26;6:30183. doi: 10.1038/srep30183. Sci Rep. 2016. PMID: 27456980 Free PMC article.
These findings suggested to us that ABCD4 translocated from the ER to lysosomes in association with LMBD1. In this report, it is demonstrated that ABCD4 interacts with LMBD1 and then localizes to lysosomes, and this translocation depends on the lysosomal targeting a …
These findings suggested to us that ABCD4 translocated from the ER to lysosomes in association with LMBD1. In this report, it is demo …
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B(12)-trafficking proteins ABCD4 and LMBD1.
Fettelschoss V, Burda P, Sagné C, Coelho D, De Laet C, Lutz S, Suormala T, Fowler B, Pietrancosta N, Gasnier B, Bornhauser B, Froese DS, Baumgartner MR. Fettelschoss V, et al. J Biol Chem. 2017 Jul 14;292(28):11980-11991. doi: 10.1074/jbc.M117.784819. Epub 2017 Jun 1. J Biol Chem. 2017. PMID: 28572511 Free PMC article.
The integral membrane proteins LMBD1 and ABCD4 are required for lysosomal release of Cbl, and mutations in the genes LMBRD1 and ABCD4 result in the cobalamin metabolism disorders cblF and cblJ. ...Finally, we showed that ABCD4 lysosomal targeting depends on c …
The integral membrane proteins LMBD1 and ABCD4 are required for lysosomal release of Cbl, and mutations in the genes LMBRD1 and AB …
Role of Genetic Variation in ABC Transporters in Breast Cancer Prognosis and Therapy Response.
Hlaváč V, Václavíková R, Brynychová V, Koževnikovová R, Kopečková K, Vrána D, Gatěk J, Souček P. Hlaváč V, et al. Int J Mol Sci. 2020 Dec 15;21(24):9556. doi: 10.3390/ijms21249556. Int J Mol Sci. 2020. PMID: 33334016 Free PMC article.
The role of germline genetic variability in ATP-binding cassette (ABC) transporters in cancer chemoresistance and prognosis still needs to be elucidated. ...Variants in ABCA4, ABCA9, ABCA12, ABCB5, ABCC5, ABCC8, ABCC11, and ABCD4 associated with respon …
The role of germline genetic variability in ATP-binding cassette (ABC) transporters in cancer chemoresistance and progn …
Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency - molecular profiling and functional rescue.
Addis L, Virdee JK, Vidler LR, Collier DA, Pal DK, Ursu D. Addis L, et al. Sci Rep. 2017 Feb 27;7(1):66. doi: 10.1038/s41598-017-00115-w. Sci Rep. 2017. PMID: 28242877 Free PMC article.
Mutations in the N-methyl-D-aspartate receptor (NMDAR) gene GRIN2A cause epilepsy-aphasia syndrome (EAS), a spectrum of epileptic, cognitive and language disorders. ...We were able to rescue the phenotype of P79R, C231Y, G483R and M705V after treatment with a GluN2A …
Mutations in the N-methyl-D-aspartate receptor (NMDAR) gene GRIN2A cause epilepsy-aphasia syndrome (EAS), a spectrum of epileptic, co …
Altered zinc sensitivity of NMDA receptors harboring clinically-relevant mutations.
Serraz B, Grand T, Paoletti P. Serraz B, et al. Neuropharmacology. 2016 Oct;109:196-204. doi: 10.1016/j.neuropharm.2016.06.008. Epub 2016 Jun 7. Neuropharmacology. 2016. PMID: 27288002 Free article.
Surprisingly, both increase (GluN2A-R370W) and decrease (GluN2A-P79R) of zinc sensitivity were observed on receptors containing either one or two copies of the mutated subunits. ...
Surprisingly, both increase (GluN2A-R370W) and decrease (GluN2A-P79R) of zinc sensitivity were observed on receptors containing eithe …
Ivacaftor-Mediated Potentiation of ABCB4 Missense Mutations Affecting Critical Motifs of the NBDs: Repositioning Perspectives for Hepatobiliary Diseases.
Delaunay JL, Elbahnsi A, Bruneau A, Madry C, Durand-Schneider AM, Stary A, Housset C, Gautheron J, Callebaut I, Aït-Slimane T. Delaunay JL, et al. Int J Mol Sci. 2023 Jan 8;24(2):1236. doi: 10.3390/ijms24021236. Int J Mol Sci. 2023. PMID: 36674751 Free PMC article.
ABCB4 (ATP-binding cassette subfamily B member 4) is a hepatocanalicular floppase involved in biliary phosphatidylcholine (PC) secretion. ...Our results provide evidence that functional ABCB4 mutations are rescued by ivacaftor, paving the …
ABCB4 (ATP-binding cassette subfamily B member 4) is a hepatocanalicular floppase involved in bili …
Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant.
Braz SV, Benicio RA, Tonelli GSSS, Báo SN, Moretti PN, Pic-Taylor A, Oliveira SF, Acevedo AC, Costa IMC, Mazzeu JF. Braz SV, et al. Clin Exp Dermatol. 2022 Apr;47(4):812-815. doi: 10.1111/ced.15046. Epub 2021 Dec 27. Clin Exp Dermatol. 2022. PMID: 34958133
Cobalamin (vitamin B12) is important in gastrulation, nervous system development and haemoglobin formation. Mutations of the ABCD4 or LMBRD1 genes can lead to cobalamin-related disorders. We report a patient with disseminated skin hyperpigmentation caused by a homozygous L …
Cobalamin (vitamin B12) is important in gastrulation, nervous system development and haemoglobin formation. Mutations of the ABCD4 or …
Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.
Pillai NR, Miller D, Pierpont EI, Berry SA, Aggarwal A. Pillai NR, et al. Am J Med Genet A. 2021 Jun;185(6):1870-1874. doi: 10.1002/ajmg.a.62170. Epub 2021 Mar 17. Am J Med Genet A. 2021. PMID: 33729671
Cobalamin J disease (CblJ) is an ultra-rare autosomal recessive disorder of intracellular cobalamin metabolism associated with combined methylmalonic acidemia and homocystinuria. It is caused by pathogenic variants in ABCD4, which encodes an ATP-binding ca …
Cobalamin J disease (CblJ) is an ultra-rare autosomal recessive disorder of intracellular cobalamin metabolism associated with combined meth …
16 results