Zobrazeno 1 - 10
of 68
pro vyhledávání: '"Janghoo Lim"'
Autor:
Leon Tejwani, Youngseob Jung, Hiroshi Kokubu, Sowmithra Sowmithra, Luhan Ni, Changwoo Lee, Benjamin Sanders, Paul J. Lee, Yangfei Xiang, Kimberly Luttik, Armand Soriano, Jennifer Yoon, Junhyun Park, Hannah H. Ro, Hyoungseok Ju, Clara Liao, Sofia Massaro Tieze, Frank Rigo, Paymaan Jafar-Nejad, Janghoo Lim
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 16 (2023)
Protein aggregation is a hallmark of many neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS). Although mutations in TARDBP, encoding transactive response DNA-binding protein 43 kDa (TDP-43), account for less than 1% of all ALS
Externí odkaz:
https://doaj.org/article/3422673f0c504358a6b5a37951131574
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
Spinal and Bulbar Muscular Atrophy (SBMA) is an X-linked adult-onset progressive neuromuscular disease that affects the spinal and bulbar motor neurons and skeletal muscles. SBMA is caused by expansion of polymorphic CAG trinucleotide repeats in the
Externí odkaz:
https://doaj.org/article/c87c2bffb9ce454fb41798adf4a4306e
Autor:
Tingting Dong, Leon Tejwani, Youngseob Jung, Hiroshi Kokubu, Kimberly Luttik, Terri M. Driessen, Janghoo Lim
Publikováno v:
JCI Insight, Vol 6, Iss 22 (2021)
Genetic variants in Granulin (GRN), which encodes the secreted glycoprotein progranulin (PGRN), are associated with several neurodegenerative diseases, including frontotemporal lobar degeneration, neuronal ceroid lipofuscinosis, and Alzheimer’s dis
Externí odkaz:
https://doaj.org/article/83878021b4ae453a89af51ee5d8cbe4b
Autor:
Zeeshan Gauhar, Leon Tejwani, Uzma Abdullah, Sadia Saeed, Shagufta Shafique, Mazhar Badshah, Jungmin Choi, Weilai Dong, Carol Nelson-Williams, Richard P. Lifton, Janghoo Lim, Ghazala K. Raja
Publikováno v:
Cells, Vol 11, Iss 19, p 3090 (2022)
Autosomal-recessive cerebellar ataxias (ARCAs) are heterogeneous rare disorders mainly affecting the cerebellum and manifest as movement disorders in children and young adults. To date, ARCA causing mutations have been identified in nearly 100 genes;
Externí odkaz:
https://doaj.org/article/8b4eb39ce0dc404498614cfcd9839e1d
Autor:
Kimberly Luttik, Victor Olmos, Ashley Owens, Aryaan Khan, Joy Yun, Terri Driessen, Janghoo Lim
Publikováno v:
Cells, Vol 11, Iss 17, p 2632 (2022)
The neurodegenerative disease spinocerebellar ataxia type 1 (SCA1) is known to lead to the progressive degeneration of specific neuronal populations, including cerebellar Purkinje cells (PCs), brainstem cranial nerve nuclei and inferior olive nuclei,
Externí odkaz:
https://doaj.org/article/ae9c0b9070d04f99bf6c7fe4c0390803
Publikováno v:
eLife, Vol 7 (2018)
The neurodegenerative disorder spinocerebellar ataxia type 1 (SCA1) affects the cerebellum and inferior olive, though previous research has focused primarily on the cerebellum. As a result, it is unknown what molecular alterations are present in the
Externí odkaz:
https://doaj.org/article/e94b8a57c3ee4abfbed50b84de2acc07
Autor:
Tiffany W Todd, Hiroshi Kokubu, Helen C Miranda, Constanza J Cortes, Albert R La Spada, Janghoo Lim
Publikováno v:
eLife, Vol 4 (2015)
Spinal and bulbar muscular atrophy (SBMA) is a progressive neuromuscular disease caused by polyglutamine expansion in the androgen receptor (AR) protein. Despite extensive research, the exact pathogenic mechanisms underlying SBMA remain elusive. In t
Externí odkaz:
https://doaj.org/article/cc43d13fc78744b6a1f713f365da0625
Autor:
Hiroshi Kokubu, Janghoo Lim
Publikováno v:
Bio-Protocol, Vol 4, Iss 5 (2014)
Knowing expression patterns of given proteins is very important to understand their functions. Immunostaining analysis with specific antibodies is commonly used to identify cells or tissues expressing proteins of interest. Although this technique is
Externí odkaz:
https://doaj.org/article/fe38e51b6e744020802a5b2aa3dfacf4
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e88171 (2014)
The coordinated regulation of cell fate and cell survival is crucial for normal pattern formation in developing organisms. In Drosophila compound eye development, crystalline arrays of hexagonal ommatidia are established by precise assembly of divers
Externí odkaz:
https://doaj.org/article/00f4892cab86414daeb4e1251adc11dd
Autor:
Ismael Al-Ramahi, Alma M Pérez, Janghoo Lim, Minghang Zhang, Rie Sorensen, Maria de Haro, Joana Branco, Stefan M Pulst, Huda Y Zoghbi, Juan Botas
Publikováno v:
PLoS Genetics, Vol 3, Iss 12, p e234 (2007)
Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of neurodegenerative disorders sharing atrophy of the cerebellum as a common feature. SCA1 and SCA2 are two ataxias caused by expansion of polyglutamine tracts in Ataxin-1 (ATXN1) a
Externí odkaz:
https://doaj.org/article/c21831aed4094487b5dbce8384a15064