SECTION EDITOR: HASSAN M. FATHALLAH-SHAYKH, MD Genetic Linkage Analysis (2008)
Genetic linkage analysis is a powerful tool to detect the chromosomal location of disease genes. It is based on the observation that genes that reside physically close on a chromosome remain linked...
dAtaxin-2 Mediates Expanded Ataxin-1-Induced Neurodegeneration in a Drosophila Model of SCA1 (2007)
Ismael Al-Ramahi, Alma M. Pérez, Janghoo Lim, Minghang Zhang, Rie Sorensen, Maria De Haro, ...
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...
dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1 (2007)
Ismael Al-Ramahi, Alma M Perez, Janghoo Lim, Minghang Zhang, Rie Sorensen, Maria De Haro, ...
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...
Mouse Models of HRS-NF2 Interaction (2006)
Neurofibromatosis 2 (NF2) is a tumor suppressor gene syndrome characterized by the development of tumors of Schwann cell, meningeal, and ependymal origin. NF2 is also the gene most commonly mutated...
Huynh, Duong P., Scoles, Daniel R, Nguyen, Dung, Pulst, Stefan M
Inactivating mutations of the gene encoding parkin are responsible for some forms of autosomal recessive juvenile Parkinson disease. Parkin is an ubiquitin ligase that ubiquitinates misfolded...
Huynh, Duong P., Yang, Hai-Tao, Vakharia, Hema, Nguyen, Dung, Pulst, Stefan M.
Spinocerebellar ataxia type 2 (SCA2) is caused by the expansion of a polyglutamine (polyQ) repeat in ataxin-2, the SCA2 gene product. In contrast to other polyQ diseases, intranuclear inclusions are...
Huynh, Duong P., Scoles, Daniel R., Nguyen, Dung, Pulst, Stefan M.
Inactivating mutations of the gene encoding parkin are responsible for some forms of autosomal recessive juvenile Parkinson disease. Parkin is a ubiquitin ligase that ubiquitinates misfolded proteins...
Huynh, Duong P., Scoles, Daniel R, Nguyen, Dung, Pulst, Stefan M
Inactivating mutations of the gene encoding parkin are responsible for some forms of autosomal recessive juvenile Parkinson disease. Parkin is an ubiquitin ligase that ubiquitinates misfolded...
Sun, Chun-Xiao, Haipek, Carrie, Scoles, Daniel R., Pulst, Stefan M., Giovannini, Marco, Komada, Masayuki, ...
Individuals with the neurofibromatosis 2 (NF2) inherited tumor predisposition syndrome are prone to the development of nervous system tumors, including schwannomas and meningiomas. The NF2 tumor...
Bruder, Carl E.G., Hirvelä, Carina, Tapia-Paez, Isabel, Fransson, Ingegerd, Segraves, Richard, Hamilton, Greg, ...
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder whose hallmark is bilateral vestibular schwannoma. It displays a pronounced clinical heterogeneity with mild to severe forms. The NF2...
Gutmann, David H., Haipek, Carrie A., Burke, Stephen P., Sun, Chun-Xiao, Scoles, Daniel R., Pulst, Stefan M.
The neurofibromatosis 2 tumor suppressor protein, merlin or schwannomin, functions as a negative growth regulator; however, its mechanism of action is not known. In an effort to determine how merlin...
NF2 in Hrs-Mediated Signal Transduction (1998)
We have identified Hrs (hepatocyte growth factor-regulated tyrosine kinase substrate) as an NF2 binding protein using the yeast two-hybrid system. Hrs is also known to interact with STAM (signal...
NF2 in Hrs-Mediated Signal Transduction (1998)
We have identified Hrs (hepatocyte growth factor-regulated tyrosine kinase substrate) as an NF2 binding protein using the yeast two-hybrid system. Hrs is also known to interact with STAM (signal...
Expression Profiling of Cell Lines Expressing Regulated NF2 Transcripts (1998)
Expression profiling is a powerful novel technique to examine changes in the expression of a large number of genes at the same time. Parallel analysis of gene expression reflects the changing view of...
NF2 in Hrs-Mediated Signal Transduction (1998)
We have identified Hrs (hepatocyte growth factor-regulated tyrosine kinase substrate) as an NF2 binding protein using the yeast two-hybrid system. Hrs is also known to interact with STAM (signal...
Expression Profiling of Cell Lines Expressing Regulated NF2 Transcripts (1998)
Expression profiling is a powerful novel technique to examine changes in the expression of a large number of genes at the same tune. Different phenotypic states of a cell can be translated into...
NF2 in Hrs-Mediated Signal Transduction (1998)
We have identified Hrs (hepatocyte growth factor-regulated tyronsine kinase substrate)as an NF2 binding protein using the yeast two-hybrid system. Hrs is also known to interact with STAM (signal...
Expression Profiling of Cell Lines Expressing Regulated NP2 Transcripts (1998)
Expression profiling is a powerful novel technique to examine changes in the expression of a large number of genes at the same time. Different phenotypic states of a cell can be translated into...
CA-repeat polymorphism at the D22S430 locus adjacent to NF2 (1993)
Sainz, Jesús, Nechiporuk, Alex, Kim, Ung-Jin, Simon, Melvin I., Pulst, Stefan M.
Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region
Kamino, Kouzin, Orr, Harry T., Payami, Haydeh, Wijsman, Ellen M., Alonso, Ma. Elisa, Pulst, Stefan M., ...
A large number of familial Alzheimer disease (FAD) kindreds were examined to determine whether mutations in the amyloid precursor protein (APP) gene could be responsible for the disease. Previous...
Somatic and Germline Instability of the ATTCT Repeat in Spinocerebellar Ataxia Type 10
Matsuura, Tohru, Fang, Ping, Lin, Xi, Khajavi, Mehrdad, Tsuji, Kuniko, Rasmussen, Astrid, ...
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder characterized by ataxia, seizures, and anticipation. It is caused by an expanded ATTCT pentanucleotide repeat in intron 9 of a...
Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region
Kamino, Kouzin, Orr, Harry T., Payami, Haydeh, Wijsman, Ellen M., Alonso, Ma. Elisa, Pulst, Stefan M., ...
A large number of familial Alzheimer disease (FAD) kindreds were examined to determine whether mutations in the amyloid precursor protein (APP) gene could be responsible for the disease. Previous...
dAtaxin-2 Mediates Expanded Ataxin-1-Induced Neurodegeneration in a Drosophila Model of SCA1
Al-Ramahi, Ismael, Pérez, Alma M, Lim, Janghoo, Zhang, Minghang, Sorensen, Rie, De Haro, Maria, ...
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...
Dissociated Fear and Spatial Learning in Mice with Deficiency of Ataxin-2
Huynh, Duong P., Maalouf, Marwan, Silva, Alcino J., Schweizer, Felix E., Pulst, Stefan M.
Mouse models with physiological and behavioral differences attributable to differential plasticity of hippocampal and amygdalar neuronal networks are rare. We previously generated ataxin-2 (Atxn2)...