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MDPIMDPI

8 Results Found

  • Article
  • Open Access
2 Citations
2,192 Views
16 Pages
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Niemann-Pick C-like Endolysosomal Dysfunction in DHDDS Patient Cells, a Congenital Disorder of Glycosylation, Can Be Treated with Miglustat

  • Hannah L. Best,
  • Sophie R. Cook,
  • Helen Waller-Evans and
  • Emyr Lloyd-Evans
Int. J. Mol. Sci.2025, 26(4), 1471;https://doi.org/10.3390/ijms26041471

10 February 2025

DHDDS (dehydrodolichol diphosphate synthetase) and NgBR (Nogo-B Receptor) collectively form an enzymatic complex important for the synthesis of dolichol, a key component of protein N-glycosylation. Mutations in DHDDS and the gene encoding NgBR (NUS1)...

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  • Article
  • Open Access
10 Citations
7,343 Views
11 Pages
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Lack of Overt Retinal Degeneration in a K42E Dhdds Knock-In Mouse Model of RP59

  • Sriganesh Ramachandra Rao,
  • Steven J. Fliesler,
  • Pravallika Kotla,
  • Mai N. Nguyen and
  • Steven J. Pittler
Cells2020, 9(4), 896;https://doi.org/10.3390/cells9040896

7 April 2020

Dehydrodolichyl diphosphate synthase (DHDDS) is required for protein N-glycosylation in eukaryotic cells. A K42E point mutation in the DHDDS gene causes an autosomal recessive form of retinitis pigmentosa (RP59), which has been classified as a congen...

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  • Article
  • Open Access
10 Citations
4,009 Views
14 Pages
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Structural Characterization of Full-Length Human Dehydrodolichyl Diphosphate Synthase Using an Integrative Computational and Experimental Approach

  • Michal Lisnyansky Bar-El,
  • Su Youn Lee,
  • Ah Young Ki,
  • Noa Kapelushnik,
  • Anat Loewenstein,
  • Ka Young Chung,
  • Dina Schneidman-Duhovny,
  • Moshe Giladi,
  • Hadas Newman and
  • Yoni Haitin
Biomolecules2019, 9(11), 660;https://doi.org/10.3390/biom9110660

28 October 2019

Dehydrodolichyl diphosphate synthase (DHDDS) is the catalytic subunit of the heteromeric human cis-prenyltransferase complex, synthesizing the glycosyl carrier precursor for N-linked protein glycosylation. Consistent with the important role of N-glyc...

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  • Review
  • Open Access
3 Citations
2,728 Views
14 Pages
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Vertebrate Animal Models of RP59: Current Status and Future Prospects

  • Steven J. Fliesler,
  • Sriganesh Ramachandra Rao,
  • Mai N. Nguyen,
  • Mahmoud Tawfik KhalafAllah and
  • Steven J. Pittler
Int. J. Mol. Sci.2022, 23(21), 13324;https://doi.org/10.3390/ijms232113324

1 November 2022

Retinitis pigmentosa-59 (RP59) is a rare, recessive form of RP, caused by mutations in the gene encoding DHDDS (dehydrodolichyl diphosphate synthase). DHDDS forms a heterotetrameric complex with Nogo-B receptor (NgBR; gene NUS1) to form a cis-prenylt...

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  • Article
  • Open Access
5 Citations
2,985 Views
15 Pages
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Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation–Effect of an ALG6 Modifier Variant

  • Elisha Monson,
  • Artur V. Cideciyan,
  • Alejandro J. Roman,
  • Alexander Sumaroka,
  • Malgorzata Swider,
  • Vivian Wu,
  • Iryna Viarbitskaya,
  • Samuel G. Jacobson,
  • Steven J. Fliesler and
  • Steven J. Pittler
Int. J. Mol. Sci.2024, 25(2), 1004;https://doi.org/10.3390/ijms25021004

13 January 2024

Modern advances in disease genetics have uncovered numerous modifier genes that play a role in the severity of disease expression. One such class of genetic conditions is known as inherited retinal degenerations (IRDs), a collection of retinal degene...

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  • Article
  • Open Access
6 Citations
5,612 Views
10 Pages
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Dme-Hsa Disease Database (DHDD): Conserved Human Disease-Related miRNA and Their Targeting Genes in Drosophila melanogaster

  • Guanyun Wei,
  • Lianjie Sun,
  • Shijie Qin,
  • Ruimin Li,
  • Liming Chen,
  • Ping Jin and
  • Fei Ma
Int. J. Mol. Sci.2018, 19(9), 2642;https://doi.org/10.3390/ijms19092642

6 September 2018

Abnormal expressions of microRNA (miRNA) can result in human diseases such as cancer and neurodegenerative diseases. MiRNA mainly exert their biological functions via repressing the expression of their target genes. Drosophila melanogaster (D. melano...

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  • Article
  • Open Access
12 Citations
6,864 Views
13 Pages
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Selective Ablation of Dehydrodolichyl Diphosphate Synthase in Murine Retinal Pigment Epithelium (RPE) Causes RPE Atrophy and Retinal Degeneration

  • Marci L. DeRamus,
  • Stephanie J. Davis,
  • Sriganesh Ramachandra Rao,
  • Cyril Nyankerh,
  • Delores Stacks,
  • Timothy W. Kraft,
  • Steven J. Fliesler and
  • Steven J. Pittler
Cells2020, 9(3), 771;https://doi.org/10.3390/cells9030771

21 March 2020

Patients with certain defects in the dehydrodolichyl diphosphate synthase (DHDDS) gene (RP59; OMIM #613861) exhibit classic symptoms of retinitis pigmentosa, as well as macular changes, suggestive of retinal pigment epithelium (RPE) involvement. The...

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  • Article
  • Open Access
3 Citations
2,458 Views
15 Pages
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Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism

  • Yogapriya Sundaresan,
  • Antonio Rivera,
  • Alexey Obolensky,
  • Prakadeeswari Gopalakrishnan,
  • Hanit Ohayon Hadad,
  • Aya Shemesh,
  • Samer Khateb,
  • Maya Ross,
  • Ron Ofri and
  • Dror Sharon
  • + 7 authors
Genes2024, 15(6), 804;https://doi.org/10.3390/genes15060804

18 June 2024

Retinitis pigmentosa (RP) is a heterogeneous inherited retinal disorder. Mutations in KIZ cause autosomal recessive (AR) RP. We aimed to characterize the genotype, expression pattern, and phenotype in a large cohort of KIZ cases. Sanger and whole exo...

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