Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Yulia Grishchuk"'
Autor:
Madison L. Sangster, Martha M. Bishop, Yizheng Yao, Jessica F. Feitor, Sanjid Shahriar, Maxwell E. Miller, Anil K. Chekuri, Bogdan Budnik, Fengfeng Bei, Yulia Grishchuk
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 2, Pp 101269- (2024)
Mucolipidosis IV (MLIV) is a rare, autosomal recessive, lysosomal disease characterized by intellectual disability, motor deficits, and progressive vision loss. Using adeno-associated vector 9 (AAV9) and AAV-PHP.B as delivery vectors, we previously d
Externí odkaz:
https://doaj.org/article/e7cd057cd76f4b5bae5aa926b9586f15
Autor:
Madison Sangster, Sanjid Shahriar, Zachary Niziolek, Maria Carla Carisi, Michael Lewandowski, Bogdan Budnik, Yulia Grishchuk
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
Mucolipidosis IV (MLIV) is an ultra-rare, recessively inherited lysosomal disorder resulting from inactivating mutations in MCOLN1, the gene encoding the lysosomal cation channel TRPML1. The disease primarily affects the central nervous system (CNS)
Externí odkaz:
https://doaj.org/article/1273565b6a844f56b8aaccfa74f9fe3e
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
Abstract Background Mucolipidosis type IV (MLIV), an ultra-rare neurodevelopmental and neurodegenerative disorder, is caused by mutations in the MCOLN1 gene, which encodes the late endosomal/lysosomal transient receptor potential channel TRPML1 (muco
Externí odkaz:
https://doaj.org/article/67440a526e7946dd9a8095ed8498df40
Autor:
Albert L. Misko, Laura D. Weinstock, Sitara B. Sankar, Amanda Furness, Yulia Grishchuk, Levi B. Wood
Publikováno v:
Cells, Vol 11, Iss 3, p 546 (2022)
Background: Mucolipidosis IV (MLIV) is an autosomal recessive pediatric disease that leads to motor and cognitive deficits and loss of vision. It is caused by a loss of function of the lysosomal channel transient receptor potential mucolipin-1 and is
Externí odkaz:
https://doaj.org/article/dcfad4241a3e4c118819837db3113009
Autor:
Molly Mepyans, Livia Andrzejczuk, Jahree Sosa, Sierra Smith, Shawn Herron, Samantha DeRosa, Susan A. Slaugenhaupt, Albert Misko, Yulia Grishchuk, Kirill Kiselyov
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 7 (2020)
Mucolipidosis type IV (MLIV) is a lysosomal disease caused by mutations in the MCOLN1 gene that encodes the endolysosomal transient receptor potential channel mucolipin-1, or TRPML1. MLIV results in developmental delay, motor and cognitive impairment
Externí odkaz:
https://doaj.org/article/2be17794d96e4af8a4f42ce17d73fa0c
Autor:
Lauren C. Boudewyn, Jakub Sikora, Ladislav Kuchar, Jana Ledvinova, Yulia Grishchuk, Shirley L. Wang, Kostantin Dobrenis, Steven U. Walkley
Publikováno v:
Neurobiology of Disease, Vol 105, Iss , Pp 257-270 (2017)
Mucolipidosis type IV (MLIV) is a lysosomal storage disease exhibiting progressive intellectual disability, motor impairment, and premature death. There is currently no cure or corrective treatment. The disease results from mutations in the gene enco
Externí odkaz:
https://doaj.org/article/b81389fe9ee8420dbba5ee3f6d52b385
Autor:
Yulia Grishchuk, Karina A. Peña, Jessica Coblentz, Victoria E. King, Daniel M. Humphrey, Shirley L. Wang, Kirill I. Kiselyov, Susan A. Slaugenhaupt
Publikováno v:
Disease Models & Mechanisms, Vol 8, Iss 12, Pp 1591-1601 (2015)
Mucolipidosis type IV (MLIV) is a lysosomal storage disease caused by mutations in the MCOLN1 gene, which encodes the lysosomal transient receptor potential ion channel mucolipin-1 (TRPML1). MLIV causes impaired motor and cognitive development, progr
Externí odkaz:
https://doaj.org/article/9ee9cc7ff7c24f39b43e0ef3cef988dc
Autor:
Debora Kidron, Raphael Schiffmann, Yulia Grishchuk, Dorit Lev, Z. Leibovitz, Yael Fisher, Ayelet Zerem, Naama Orenstein, Nitzan Vigdorovich, Liat Ben-Sira, Albert L. Misko, Tally Lerman-Sagie
Publikováno v:
Metabolic Brain Disease. 36:2155-2167
Mucolipidosis type IV (MLIV; OMIM 252,650) is an autosomal recessive lysosomal disorder caused by mutations in MCOLN1. MLIV causes psychomotor impairment and progressive vision loss. The major hallmarks of postnatal brain MRI are hypomyelination and
Autor:
Levi B. Wood, Sitara B. Sankar, Furness A, Albert L. Misko, Yulia Grishchuk, Laura D. Weinstock
Publikováno v:
Cells, Vol 11, Iss 546, p 546 (2022)
Cells; Volume 11; Issue 3; Pages: 546
Cells; Volume 11; Issue 3; Pages: 546
Background: Mucolipidosis IV (MLIV) is an autosomal recessive pediatric disease that leads to motor and cognitive deficits and loss of vision. It is caused by a loss of function of the lysosomal channel transient receptor potential mucolipin-1 and is
Autor:
Albert L. Misko, Levi B. Wood, Madeline DeBono, Rebecca Oberman, Annick Raas-Rothschild, Yulia Grishchuk, Florian Eichler
Publikováno v:
Neurology. Genetics. 8(2)
Background and ObjectivesMucolipidosis type IV (MLIV) is an ultra-rare lysosomal disorder initially described as a static neurodevelopmental condition. However, patient caregivers frequently report progressive muscular hypertonicity and functional de