Yuri V Sergeev
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Explore the profile of Yuri V Sergeev including associated specialties, affiliations and a list of published articles.
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63
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1709
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Recent Articles
1.
Toay S, Sheri N, Macdonald I, Sergeev Y
Protein Sci
. 2025 Jan;
34(2):e70029.
PMID: 39840795
Oculocutaneous albinism is an autosomal recessive inherited disorder associated with mutations in the TYR gene. A single missense change in the tyrosinase (Tyr) could result in partial or complete loss...
2.
Neelathi U, Ullah E, George A, Maftei M, Boobalan E, Sanchez-Mendoza D, et al.
Res Sq
. 2024 Nov;
PMID: 39606449
Colobomatous microphthalmia is a potentially blinding congenital ocular malformation that can present either in isolation or together with other syndromic features. Despite a strong genetic component to disease, many cases...
3.
Neelathi U, Ullah E, George A, Maftei M, Boobalan E, Sanchez-Mendoza D, et al.
medRxiv
. 2024 Nov;
PMID: 39606382
Colobomatous microphthalmia is a potentially blinding congenital ocular malformation that can present either in isolation or together with other syndromic features. Despite a strong genetic component to disease, many cases...
4.
Majid I, Sergeev Y
Int J Mol Sci
. 2024 Nov;
25(21).
PMID: 39519200
Understanding the effect of single-missense mutations on protein stability is crucial for clinical decision-making and therapeutic development. The impact of these mutations on protein stability and 3D structure remains underexplored....
5.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, et al.
Brain
. 2024 May;
147(6):2085-2097.
PMID: 38735647
Biallelic pathogenic variants in the PNPLA6 gene cause a broad spectrum of disorders leading to gait disturbance, visual impairment, anterior hypopituitarism and hair anomalies. PNPLA6 encodes neuropathy target esterase (NTE),...
6.
Dolinska M, Sergeev Y
Int J Mol Sci
. 2024 Mar;
25(6).
PMID: 38542347
Tyrosinase serves as the key enzyme in melanin biosynthesis, catalyzing the initial steps of the pathway, the hydroxylation of the amino acid L-tyrosine into L-3,4-dihydroxyphenylalanine (L-DOPA), followed by the subsequent...
7.
Woods T, Sergeev Y
Int J Mol Sci
. 2023 Sep;
24(17).
PMID: 37685839
The inherited disorder oculocutaneous albinism type 1 (OCA1) is caused by mutations in the gene encoding tyrosinase (Tyr), an enzyme essential to producing pigments throughout the human body. The intramelanosomal...
8.
Loftus S, Gillis M, Lundh L, Baxter L, Wedel J, Watkins-Chow D, et al.
Am J Hum Genet
. 2023 Jun;
110(7):1123-1137.
PMID: 37327787
Oculocutaneous albinism (OCA) is a rare disorder of pigment production. Affected individuals have variably decreased global pigmentation and visual-developmental changes that lead to low vision. OCA is notable for significant...
9.
Zelinger L, Martin T, Advani J, Campello L, English M, Kwong A, et al.
iScience
. 2023 May;
26(4):106417.
PMID: 37153444
Genome-wide association studies have uncovered 52 independent common and rare variants across 34 genetic loci, which influence susceptibility to age related macular degeneration (AMD). Of the 5 AMD-associated complement genes,...
10.
In Vitro Reconstitution of the Melanin Pathway's Catalytic Activities Using Tyrosinase Nanoparticles
Osuna I, Dolinska M, Sergeev Y
Int J Mol Sci
. 2023 Jan;
24(1).
PMID: 36614088
The melanogenesis pathway is characterized by a series of reactions catalyzed by key enzymes, such as tyrosinase (TYR), tyrosinase-related protein 2 (TYRP2), and tyrosinase-related protein 1 (TYRP1), to produce melanin...