Transgenic Mice in the Study of Polyglutamine Repeat Expansion Diseases

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

1993 • 7,941 citations

Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice

1996 • 3,012 citations

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

1991 • 2,763 citations

Aggregation of Huntingtin in Neuronal Intranuclear Inclusions and Dystrophic Neurites in Brain

1997 • 2,762 citations

Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation

1997 • 2,184 citations

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

1994 • 1,698 citations

UBIQUITIN-DEPENDENT PROTEIN DEGRADATION

1996 • 1,680 citations

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

1993 • 1,596 citations

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel

1997 • 1,571 citations

Huntingtin-Encoded Polyglutamine Expansions Form Amyloid-like Protein Aggregates In Vitro and In Vivo

1997 • 1,283 citations

Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)

1994 • 1,122 citations

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

1996 • 1,081 citations

Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases.

1994 • 1,065 citations

Trinucleotide repeat length instability and age of onset in Huntington's disease

1993 • 1,062 citations

Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes

1995 • 843 citations

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

1996 • 824 citations

Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3

1997 • 821 citations

Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue

1995 • 774 citations

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

1997 • 752 citations

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT

1996 • 745 citations

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

1994 • 721 citations

Inactivation of the Mouse Huntington's Disease Gene Homolog Hdh

1995 • 705 citations

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

1995 • 646 citations

A huntingtin-associated protein enriched in brain with implications for pathology

1995 • 597 citations

SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

1995 • 582 citations

Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract

1996 • 580 citations

Expanded polyglutamine in the Machado–Joseph disease protein induces cell death in vitro and in vivo

1996 • 546 citations

Structural analysis of complementary DNA and amino acid sequences of human and rat androgen receptors.

1988 • 530 citations

Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures

1997 • 528 citations

Altered brain neurotransmitter receptors in transgenic mice expressing a portion of an abnormal human Huntington disease gene

1998 • 509 citations

Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates

1998 • 490 citations

Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH

1996 • 435 citations

Intranuclear Neuronal Inclusions in Huntington's Disease and Dentatorubral and Pallidoluysian Atrophy: Correlation between the Density of Inclusions andIT15CAG Triplet Repeat Length

1998 • 421 citations

Morphometric Demonstration of Atrophic Changes in the Cerebral Cortex, White Matter, and Neostriatum in Huntington's Disease

1988 • 414 citations

Intranuclear Neuronal Inclusions: A Common Pathogenic Mechanism for Glutamine-Repeat Neurodegenerative Diseases?

1997 • 392 citations

HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain

1997 • 384 citations

Truncated N-terminal fragments of huntingtin with expanded glutamine repeats form nuclear and cytoplasmic aggregates in cell culture

1998 • 376 citations

Ectopically Expressed CAG Repeats Cause Intranuclear Inclusions and a Progressive Late Onset Neurological Phenotype in the Mouse

1997 • 374 citations

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

1994 • 369 citations

Huntingtin Is Ubiquitinated and Interacts with a Specific Ubiquitin-conjugating Enzyme

1996 • 365 citations

Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch

1998 • 360 citations

Huntingtin localization in brains of normal and Huntington's disease patients

1997 • 338 citations

Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions

1998 • 338 citations

HIP-I: A huntingtin interacting protein isolated by the yeast two-hybrid system

1997 • 335 citations

Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation

1997 • 319 citations

Purkinje Cell Expression of a Mutant Allele ofSCA1in Transgenic Mice Leads to Disparate Effects on Motor Behaviors, Followed by a Progressive Cerebellar Dysfunction and Histological Alterations

1997 • 270 citations

Structure and expression of the Huntington's disease gene: Evidence against simple inactivation due to an expanded CAG repeat

1994 • 266 citations

When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases

1995 • 263 citations

The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1

1997 • 249 citations

Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)

1994 • 202 citations

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)_n repeat length is the sex of the affected parent

1993 • 195 citations

STUDIES ON BRAIN BIOPSIES OF PATIENTS WITH HUNTINGTONʼS CHOREA

1974 • 185 citations

Structural Neurology: Are Seeds at the Root of Neuronal Degeneration?

1997 • 172 citations

Are neuronal intranuclear inclusions the common neuropathology of triplet-repeat disorders with polyglutamine-repeat expansions?

1998 • 163 citations

Heterogeneous Topographic and Cellular Distribution of Huntingtin Expression in the Normal Human Neostriatum

1997 • 161 citations

Aggregation of N-terminal huntingtin is dependent on the length of its glutamine repeats

1998 • 161 citations

Comparative sequence analysis of the human and pufferfish Huntington's disease genes

1995 • 138 citations

Huntingtin Immunoreactivity in the Rat Neostriatum: Differential Accumulation in Projection and Interneurons

1997 • 63 citations

Nuclear membrane indentations in Huntington's chorea

1983 • 52 citations

HAP1‐huntingtin interactions do not contribute to the molecular pathology in Huntington's disease transgenic mice

1998 • 40 citations

Amyloid-like properties of a synthetic peptide corresponding to the carboxy terminus of β-amyloid protein precursor

1992 • 29 citations