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An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation
John F Staropoli, Winnie Xin, Rosemary Barone, Susan L Cotman, Katherine B Sims
BMC Medical Genetics , 2012, DOI: 10.1186/1471-2350-13-50
Abstract: We describe a proband with congenital hypotonia and an atypical form of infantile-onset, biopsy-proven NCL. Pathologic and molecular work-up of this patient identified CLN5 mutations as well as a mutation―previously described as incompletely penetrant or a variant of unknown significance―in POLG1, a nuclear gene essential for maintenance of mitochondrial DNA (mtDNA) copy number. The congenital presentation of this patient is far earlier than that described for either CLN5 patients or affected carriers of the POLG1 variant (c.1550?G?>?T, p.Gly517Val). Assessment of relative mtDNA copy number and mitochondrial membrane potential in the proband and control subjects suggested a pathogenic effect of the POLG1 change as well as a possible functional interaction with CLN5 mutations.These findings suggest that an incompletely penetrant variant in POLG1 may modify the clinical phenotype in a case of CLN5 and are consistent with emerging evidence of interactions between NCL-related genes and mitochondrial physiology.
Distinct Early Molecular Responses to Mutations Causing vLINCL and JNCL Presage ATP Synthase Subunit C Accumulation in Cerebellar Cells
Yi Cao,John F. Staropoli,Sunita Biswas,Janice A. Espinola,Marcy E. MacDonald,Jong-Min Lee,Susan L. Cotman
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0017118
Abstract: Variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), caused by CLN6 mutation, and juvenile neuronal ceroid lipofuscinosis (JNCL), caused by CLN3 mutation, share clinical and pathological features, including lysosomal accumulation of mitochondrial ATP synthase subunit c, but the unrelated CLN6 and CLN3 genes may initiate disease via similar or distinct cellular processes. To gain insight into the NCL pathways, we established murine wild-type and CbCln6nclf/nclf cerebellar cells and compared them to wild-type and CbCln3Δex7/8/Δex7/8 cerebellar cells. CbCln6nclf/nclf cells and CbCln3Δex7/8/Δex7/8 cells both displayed abnormally elongated mitochondria and reduced cellular ATP levels and, as cells aged to confluence, exhibited accumulation of subunit c protein in Lamp 1-positive organelles. However, at sub-confluence, endoplasmic reticulum PDI immunostain was decreased only in CbCln6nclf/nclf cells, while fluid-phase endocytosis and LysoTracker? labeled vesicles were decreased in both CbCln6nclf/nclf and CbCln3Δex7/8/Δex7/8 cells, though only the latter cells exhibited abnormal vesicle subcellular distribution. Furthermore, unbiased gene expression analyses revealed only partial overlap in the cerebellar cell genes and pathways that were altered by the Cln3Δex7/8 and Cln6nclf mutations. Thus, these data support the hypothesis that CLN6 and CLN3 mutations trigger distinct processes that converge on a shared pathway, which is responsible for proper subunit c protein turnover and neuronal cell survival.
Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis
Elisa Fossale, Pavlina Wolf, Janice A Espinola, Tanya Lubicz-Nawrocka, Allison M Teed, Hanlin Gao, Dorotea Rigamonti, Elena Cattaneo, Marcy E MacDonald, Susan L Cotman
BMC Neuroscience , 2004, DOI: 10.1186/1471-2202-5-57
Abstract: To elucidate the consequences of the common JNCL mutation in neuronal cells, we used P4 knock-in mouse cerebella to establish conditionally immortalized CbCln3 wild-type, heterozygous, and homozygous neuronal precursor cell lines, which can be differentiated into MAP-2 and NeuN-positive, neuron-like cells. Homozygous CbCln3Δex7/8 precursor cells express low levels of mutant battenin and, when aged at confluency, accumulate ATPase subunit c. Recessive phenotypes are also observed at sub-confluent growth; cathepsin D transport and processing are altered, although enzyme activity is not significantly affected, lysosomal size and distribution are altered, and endocytosis is reduced. In addition, mitochondria are abnormally elongated, cellular ATP levels are decreased, and survival following oxidative stress is reduced.These findings reveal that battenin is required for intracellular membrane trafficking and mitochondrial function. Moreover, these deficiencies are likely to be early events in the JNCL disease process and may particularly impact neuronal survival.Juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease, is a recessively inherited childhood-onset neurodegenerative disorder characterized by progressive blindness, seizures, motor and cognitive decline, and early death [1]. The primary genetic defect (>80% disease chromosomes) leading to JNCL is a 1.02 kb genomic DNA deletion in the CLN3 gene, which eliminates exons 7 and 8 and surrounding intronic DNA, predicting a non-functional protein product [2].The pathological hallmark of JNCL is autofluorescent ceroid lipofuscin deposits within autolysosomes that are enriched in subunit c of the mitochondrial ATP synthase complex [3-5]. Remarkably, these deposits are not only found in CNS neurons but are also abundant in non-neuronal cells outside of the nervous system. The relationship of subunit c deposits to the JNCL disease process, and the underlying reason for the neuronal specificity of the disease rem
Making the Case for Using Informational Text in Preschool Classrooms  [PDF]
Susan L. Massey
Creative Education (CE) , 2014, DOI: 10.4236/ce.2014.56049
Abstract:

This article explores the use of informational text in preschool environments by reviewing the current literature related to the topic. While informational text is currently used on a limited basis in early childhood settings, the benefits of introducing young children to this genre through interactive shared reading or read-alouds can positively influence foundational literacy development. Through exposure to informational text, children enhance their vocabulary and language skills while developing conceptual background knowledge. Strong vocabulary and language skills are keys to the development of strong literacy skills upon entrance to formal schooling. Read-aloud routines scaffold the learning inherent in the language and literacy development resulting from interactions with informational text.

EXPLOITATION OF GRANITE BOULDER
Ivan Cotman
Rudarsko-Geolo?ko-Naftni Zbornik , 1994,
Abstract: The processes of forming, petrography, features, properties and exploitation of granite boulders are described. The directional drilling and black powder blasting is the succesful method in exploitation of granite boulders (boulder technology).
Large-Scale Phenotyping of an Accurate Genetic Mouse Model of JNCL Identifies Novel Early Pathology Outside the Central Nervous System
John F. Staropoli, Larissa Haliw, Sunita Biswas, Lillian Garrett, Sabine M. H?lter, Lore Becker, Sergej Skosyrski, Patricia Da Silva-Buttkus, Julia Calzada-Wack, Frauke Neff, Birgit Rathkolb, Jan Rozman, Anja Schrewe, Thure Adler, Oliver Puk, Minxuan Sun, Jack Favor, Ildikó Racz, Raffi Bekeredjian, Dirk H. Busch, Jochen Graw, Martin Klingenspor, Thomas Klopstock, Eckhard Wolf, Wolfgang Wurst, Andreas Zimmer, Edith Lopez, Hayat Harati, Eric Hill, Daniela S. Krause, Jolene Guide, Ella Dragileva, Evan Gale, Vanessa C. Wheeler, Rose-Mary Boustany, Diane E. Brown, Sylvie Breton, Klaus Ruether, Valérie Gailus-Durner, Helmut Fuchs, Martin Hrabě de Angelis, Susan L. Cotman
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0038310
Abstract: Cln3Δex7/8 mice harbor the most common genetic defect causing juvenile neuronal ceroid lipofuscinosis (JNCL), an autosomal recessive disease involving seizures, visual, motor and cognitive decline, and premature death. Here, to more thoroughly investigate the manifestations of the common JNCL mutation, we performed a broad phenotyping study of Cln3Δex7/8 mice. Homozygous Cln3Δex7/8 mice, congenic on a C57BL/6N background, displayed subtle deficits in sensory and motor tasks at 10–14 weeks of age. Homozygous Cln3Δex7/8 mice also displayed electroretinographic changes reflecting cone function deficits past 5 months of age and a progressive decline of retinal post-receptoral function. Metabolic analysis revealed increases in rectal body temperature and minimum oxygen consumption in 12–13 week old homozygous Cln3Δex7/8mice, which were also seen to a lesser extent in heterozygous Cln3Δex7/8 mice. Heart weight was slightly increased at 20 weeks of age, but no significant differences were observed in cardiac function in young adults. In a comprehensive blood analysis at 15–16 weeks of age, serum ferritin concentrations, mean corpuscular volume of red blood cells (MCV), and reticulocyte counts were reproducibly increased in homozygous Cln3Δex7/8 mice, and male homozygotes had a relative T-cell deficiency, suggesting alterations in hematopoiesis. Finally, consistent with findings in JNCL patients, vacuolated peripheral blood lymphocytes were observed in homozygous Cln3Δex7/8 neonates, and to a greater extent in older animals. Early onset, severe vacuolation in clear cells of the epididymis of male homozygous Cln3Δex7/8 mice was also observed. These data highlight additional organ systems in which to study CLN3 function, and early phenotypes have been established in homozygous Cln3Δex7/8 mice that merit further study for JNCL biomarker development.
PLANING AND STARTING EXPERIENCE OF UNDERGROUND EXPLOITATION OF DIMENSION STONE IN ISTRIA (CROATIA)
Ivan Cotman,Slavko Vujec
Rudarsko-Geolo?ko-Naftni Zbornik , 1998,
Abstract: After investigation and designing started underground exploitation of dimension stone in Istria (Croatia). On this way parallel with economical reasons, the most part of very aggressive environmental requirements will he solved.The results of numerical modeling, for design purposes, are present. New numerical models and results, with corrected dimensions of rooms and pillars, are described. Obtained, technical and economical results of experimental underground exploitation are encouraging.
THE NEW EXCAVATION METHOD OF EXPLOITATION OF BEDDING DIMENSION STONE DEPOSITS
Ivan Cotman,An?elo Damjani?
Rudarsko-Geolo?ko-Naftni Zbornik , 1991,
Abstract: The paper presents previous classic and new method of dimension stone blocks exploitation of bedding deposit with large overburden. Separate phases of working process are described on instance of Kanfanar III stone deposit exploitation. The differences of normatives and parametres are compared. Savings of the application of this new method are calculated and exhibited the technical and ecological advantages.
Evaluation of 64Cu-DOTA- and 64Cu-CBTE2A-Galectin-3 Peptide as a PET Radiotracer for breast Carcinoma  [PDF]
Senthil R. Kumar, Susan L. Deutscher
Advances in Molecular Imaging (AMI) , 2011, DOI: 10.4236/ami.2011.11001
Abstract: Galectin-3 (Gal-3) is a β-galactosidase binding protein that modulates various cellular processes including cell adhesion, and metastasis. We evaluated the tumor targeting and imaging properties of a galectin-3 binding peptide originally selected from bacteriophage display, in a mouse model of human breast carcinoma expressing galectin-3. A galectin-3 binding peptide, ANTPCGPYTHDCPVKR, was synthesized with a Gly-Ser-Gly (GSG) spacer and 1,4,7,10, tetraazacyclododecane-N,N’,N’’,N’’’-tetracetic acid (DOTA) or 4,11-bis(carboxymethyl)-1,4,8,11 tetrazabicyclo[6.6.2]hexadecane 4,11-diacetic acid (CB-TE2A), and radiolabeled with 64Cu. The synthesized peptides 64Cu-DO3A-(GSG)-ANTPCGPYTHDCPVKR (64Cu-DO3A- pep) and 64Cu-CB-TE2A-(GSG)-ANTPCGPYTHDCPVKR(64Cu-CB-TE2A-pep) demonstrated an IC50 value of 97 ± 6.7 nM and 130 ± 10.2 nM, respectively, to cultured MDA-MB-435 breast carcinoma cells in vitro in a competitive displacement binding study. The tumor tissue uptake in SCID mice bearing MDA-MB-435 tumors was 1.2 ± 0.18 %ID/g (64Cu-DO3A-pep) and 0.85 ± 0.0.9 %ID/g (64Cu-CB-TE2A-pep) at 30 min, respectively. While liver retention was moderate with both radiolabeled peptides the kidney retention was observed to be high. Radiation dose delivered to the tumor was estimated to be 42 mGy/mCi and 129 mGy/ mCi with CB-TE2A and DO3A peptides, respectively. Imaging studies demonstrated tumor uptake with both 64Cu-DO3A- and 64Cu-CB-TE2A-(GSG)-ANTPCGPYTHDCPVKR after 2 h post injection. These studies suggest that gal-3 binding peptide could be developed into a PET imaging agent for galectin-3-expressing breast tumors.
Resolving place names in Amdo and Kham: A gazetteer for the Hengduan Mountains region of Southwest China
Resolving place names in Amdo and Kham: A gazetteer for the Hengduan Mountains region of Southwest China

Susan L KELLEY,
Susan
,L.,KELLEY

植物分类学报 , 2006,
Abstract: Perhaps no region on earth presents such a confusing array of place names as does the area made up of the former Tibetan provinces of Kham and Amdo. These two places themselves have been subsumed into parts of the present day Chinese provinces of Gansu, Qinghai, Yunnan and Sichuan, and part of Kham was briefly included in the former short-lived Chinese province of Sikang in the mid 20th century. Within what was Amdo and Kham, cities, towns, villages, mountains, lakes and other geographic …
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