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Melissa Tapper Goldman

As seen in: PS, Science Magazine, Law.com, BioRxiv, Cell Press, The Hingham Journal, NYLON, JD Supra, POPSUGAR Australia, Los Alamos Daily Post
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Articles

Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s disease

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By Robert E. Handsaker, Seva Kashin, Nora Reed, Steven Tan, Won-Seok Lee, Tara McDonald, Kiely Morris, Nolan Kamitaki, Christopher D. Mullally, Neda R. Morakabati, Melissa Tapper Goldman, Gabriel Lind, Rhea Kohli, Elisabeth Lawton, Marina Hogan, Kiku Ichihara, Sabina Berretta, Steven A. McCarroll
| Cell Press Verified
Results We first used conventional single-nucleus RNA sequencing (snRNA-seq)30,31 to analyze RNA expression in 581,273 nuclei sampled from the anterior part of the caudate nucleus—the largest component of the striatum and the region most affected in HD—from 50 persons with HD and 53 unaffected controls (mean 5,643 cell nuclei per donor) (Table S1). Each nucleus was assigned to one of seven major cell types, based on the RNAs it expressed (Figures 1A and S1).
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Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s disease

|
By Robert E. Handsaker, Seva Kashin, Nora Reed, Steven Tan, Won-Seok Lee, Tara McDonald, Nolan Kamitaki, Melissa Tapper Goldman, Sabina Berretta, Steven A. McCarroll, Kiely Morris, Christopher D. Mullally, Neda R. Morakabati, Gabriel Lind, Rhea Kohli, Elisabeth Lawton, Marina Hogan, Kiku Ichihara
| Cell Press Verified
Results We first used conventional single-nucleus RNA sequencing (snRNA-seq)30,31 to analyze RNA expression in 581,273 nuclei sampled from the anterior part of the caudate nucleus—the largest component of the striatum and the region most affected in HD—from 50 persons with HD and 53 unaffected controls (mean 5,643 cell nuclei per donor) (Table S1). Each nucleus was assigned to one of seven major cell types, based on the RNAs it expressed (Figures 1A and S1).
Open in Who Shared Issue with article?

Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s disease

|
By Robert E. Handsaker, Seva Kashin, Nora Reed, Steven Tan, Won-Seok Lee, Tara McDonald, Kiely Morris, Nolan Kamitaki, Christopher D. Mullally, Neda R. Morakabati, Melissa Tapper Goldman, Gabriel Lind, Rhea Kohli, Elisabeth Lawton, Marina Hogan, Kiku Ichihara, Sabina Berretta, Steven A. McCarroll
| Cell Press Verified
Keywords Huntington’s disease DNA repeats somatic expansion repeat instability neurodegeneration striatal projection neurons CAG triplet repeat disorders single-nucleus RNA-seq Introduction Huntington’s disease (HD) is a fatal genetic neurodegenerative disease. Most people who inherit an HD-causing allele have no symptoms for decades, then develop uncontrolled movements (chorea) and cognitive and psychiatric symptoms; the motor symptoms progress to severe impairment, rigidity, and lethality.
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