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Full-Text Articles in Cell Biology

Syndromic Congenital Myelofibrosis Associated With A Loss-Of-Function Variant In Rbsn, Pilar L. Magoulas, Silvia Corvera, Luis M. Franco May 2018

Syndromic Congenital Myelofibrosis Associated With A Loss-Of-Function Variant In Rbsn, Pilar L. Magoulas, Silvia Corvera, Luis M. Franco

University of Massachusetts Medical School Faculty Publications

The human proteins rabenosyn-5 and VPS45 form a complex that plays a key role in early endocytosis. Pathogenic variants in VPS45 cause severe congenital neutropenia (SCN) with impaired neutrophil function, reticulin fibrosis of the bone marrow, and extramedullary hematopoiesis (OMIM: 615285). Patients with a specific VPS45 variant (p.Glu238Lys) also have intellectual disability and bilateral optic nerve hypoplasia. To date, the only evidence of a potential role for RBSN in human disease is the report of a homozygous missense variant (p.Gly425Arg) in a patient with intellectual disability, seizures, microcephaly, osteopenia, mild reticulin fibrosis of the bone marrow, and transient ...


Super-Resolution Microscopy Reveals That Disruption Of Ciliary Transition Zone Architecture Is A Cause Of Joubert Syndrome, Xiaoyu Shi, Galo Garcia Iii, Julie C. Van De Weghe, University Of California, San Francisco, Gregory J. Pazour, Dan Doherty, Bo Huang, Jeremy F. Reiter May 2017

Super-Resolution Microscopy Reveals That Disruption Of Ciliary Transition Zone Architecture Is A Cause Of Joubert Syndrome, Xiaoyu Shi, Galo Garcia Iii, Julie C. Van De Weghe, University Of California, San Francisco, Gregory J. Pazour, Dan Doherty, Bo Huang, Jeremy F. Reiter

University of Massachusetts Medical School Faculty Publications

Diverse human ciliopathies, including nephronophthisis (NPHP), Meckel syndrome (MKS) and Joubert syndrome (JBTS), can be caused by mutations affecting components of the transition zone, a ciliary domain near its base. The transition zone controls the protein composition of the ciliary membrane, but how it does so is unclear. To better understand the transition zone and its connection to ciliopathies, we defined the arrangement of key proteins in the transition zone using two-color stochastic optical reconstruction microscopy (STORM). This mapping revealed that NPHP and MKS complex components form nested rings comprised of nine-fold doublets. The NPHP complex component RPGRIP1L forms a ...


Immortalized Myogenic Cells From Congenital Muscular Dystrophy Type1a Patients Recapitulate Aberrant Caspase Activation In Pathogenesis: A New Tool For Mdc1a Research, Soonsang Yoon, Guido Stadler, Mary Lou Beermann, Eric V. Schmidt, James A. Windelborn, Peter Schneiderat, Woodring E. Wright, Jeffrey Boone Miller Dec 2013

Immortalized Myogenic Cells From Congenital Muscular Dystrophy Type1a Patients Recapitulate Aberrant Caspase Activation In Pathogenesis: A New Tool For Mdc1a Research, Soonsang Yoon, Guido Stadler, Mary Lou Beermann, Eric V. Schmidt, James A. Windelborn, Peter Schneiderat, Woodring E. Wright, Jeffrey Boone Miller

University of Massachusetts Medical School Faculty Publications

BACKGROUND: Congenital muscular dystrophy Type 1A (MDC1A) is a severe, recessive disease of childhood onset that is caused by mutations in the LAMA2 gene encoding laminin-alpha2. Studies with both mouse models and primary cultures of human MDC1A myogenic cells suggest that aberrant activation of cell death is a significant contributor to pathogenesis in laminin-alpha2-deficiency.

METHODS: To overcome the limited population doublings of primary cultures, we generated immortalized, clonal lines of human MDC1A myogenic cells via overexpression of both CDK4 and the telomerase catalytic component (human telomerase reverse transcriptase (hTERT)).

RESULTS: The immortalized MDC1A myogenic cells proliferated indefinitely when cultured at ...